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1. Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Author

Pereira, Renan A., Dantas, Ellen O., Loekmanwidjaja, Jessica, Mazzucchelli, Juliana T. L., Aranda, Carolina S., Serrano, Maria E. G., De La Cruz Córdoba, Elisabeth A., Bezrodnik, Liliana, Moreira, Ileana, Ferreira, Janaira F. S., Dantas, Vera M., Sales, Valéria S. F., Fernandez, Carmen C., Vilela, Maria M. S., Motta, Isabela P., Franco, Jose Luis, Arango, Julio Cesar Orrego, Álvarez-Álvarez, Jesús A., Cardozo, Lina Rocío Riaño, Orellana, Julio C., Condino-Neto, Antonio, Kokron, Cristina M., Barros, Myrthes T., Regairaz, Lorena, Cabanillas, Diana, Suarez, Carmen L. N., Rosario, Nelson A., Chong-Neto, Herberto J., Takano, Olga A., Nadaf, Maria I. S. V., Moraes, Lillian S. L., Tavares, Fabiola S., Rabelo, Flaviane, Pino, Jessica, Calderon, Wilmer C., Mendoza-Quispe, Daniel, Goudouris, Ekaterini S., Patiño, Virginia, Montenegro, Cecilia, Souza, Monica S., Branco, Aniela BXCCastelo, Forte, Wilma C. N., Carvalho, Flavia A. A., Segundo, Gesmar, Cheik, Marina F. A., Roxo-Junior, Persio, Peres, Maryanna, Oliveira, Annie M., Neto, Arnaldo C. P., Ortega-López, Maria Claudia, Lozano, Alejandro, Lozano, Natalia Andrea, Nieto, Leticia H., Grumach, Anete S., Costa, Daniele C., Antunes, Nelma M. N., Nudelman, Victor, Pereira, Camila T. M., Martinez, Maria D. M., Quiroz, Francisco J. R., Cardona, Aristoteles A., Nuñez-Nuñez, Maria E., Rodriguez, Jairo A., Cuellar, Célia M., Vijoditz, Gustavo, Bichuetti-Silva, Daniélli C., Prando, Carolina C. M., Amantéa, Sérgio L., and Costa-Carvalho, Beatriz T.

Published
2024
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2. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Author

de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, and Félix, Têmis Maria

Published
2024
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3. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Author

Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Alberto Andrade Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena Junior, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lucia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Zeny, Milena Coelho Fernandes Caldato, Ney Boa Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy Da Silva, Rayana Elias Maia, Rodrigo Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinicius Costa Lima, Wagner José Martins Paiva, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix, and Raras Network Group

Subjects
Rare diseases, Public Health System, Brazil, Brazilian Rare Diseases Network, Medicine
Abstract

Abstract Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019. Results The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF. Conclusion This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.

Published
2024
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5. Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus

Author

Reshef, Avner, Buttgereit, Thomas, Betschel, Stephen D., Caballero, Teresa, Farkas, Henriette, Grumach, Anete S., Hide, Michihiro, Jindal, Ankur K., Longhurst, Hilary, Peter, Jonathan, Riedl, Marc A., Zhi, Yuxiang, Aberer, Werner, Abuzakouk, Mohamed, Al Farsi, Tariq, Al Sukaiti, Nashat, Al-Ahmad, Mona, Altrichter, Sabine, Aygören-Pürsün, Emel, Baeza, Maria Luisa, Bara, Noemi Anna, Bauer, Andrea, Bernstein, Jonathan A., Boccon-Gibod, Isabelle, Bonnekoh, Hanna, Bouillet, Laurence, Brzoza, Zenon, Bygum, Anette, Calderon, Oscar, de Albuquerque Campos, Regis, Campos Romero, Freya Helena, Cancian, Mauro, Chong-Neto, Herberto Jose, Christoff, George, Cimbollek, Stefan, Cohn, Danny M., Craig, Timothy, Danilycheva, Inna, Darlenski, Razvigor, Du-Thanh, Aurélie, Ensina, Luis Felipe, Fomina, Daria, Fonacier, Luz, Fukunaga, Atsushi, Gelincik, Asli, Giavina-Bianchi, Pedro, Godse, Kiran, Gompels, Mark, Goncalo, Margarida, Gotua, Maia, Guidos-Fogelbach, Guillermo, Guilarte, Mar, Kasperska-Zajac, Alicja, Katelaris, Constance H., Kinaciyan, Tamar, Kolkhir, Pavel, Kulthanan, Kanokvalai, Kurowski, Marcin, Latysheva, Elena, Lauerma, Antti, Launay, David, Lleonart, Ramon, Lumry, William, Malbran, Alejandro, Ali, Ramzy Mohammed, Nasr, Iman, Nieto-Martinez, Sandra, Parisi, Claudio, Pawankar, Ruby, Piñero-Saavedra, Macarena, Popov, Todor A., Porebski, Grzegorz, Prieto Garcia, Alicia, Pyatilova, Polina, Rudenko, Michael, Sekerel, Bulent Enis, Serpa, Faradiba Sarquis, Sheikh, Farrukh, Siebenhaar, Frank, Soria, Angèle, Staevska, Maria, Staubach, Petra, Stobiecki, Marcin, Thomsen, Simon Francis, Triggiani, Massimo, Valerieva, Anna, Valle, Solange, Van Dinh, Nguyen, Vera Ayala, Carolina Elisa, Zalewska-Janowska, Anna, Zanichelli, Andrea, Magerl, Markus, and Maurer, Marcus

Published
2024
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7. Analysis of questionnaire survey to determine worldwide trends in prescriptions of biologics for the treatment of unresponsive chronic urticaria

Author

Christine J. Rubeiz, MD, Ricardo Asero, MD, Stephen Betschel, HBSc, MD, FRCP (C), Timothy Craig, DO, Anete Grumach, MD, PhD, Michihiro Hide, MD, PhD, David Lang, MD, Michael Levin, MD, PhD, Hilary Longhurst, MA, PhD, FRACP, FRCPath, Eli Magan, MD, Marcus Maurer, MD, Romi Saini, MD, Gordon Sussman, MD, Elias Toubi, MD, Dinh Nguyen Van, MD, PhD, Torsten Zuberier, MD, and Jonathan A. Bernstein, MD

Subjects
Chronic spontaneous urticaria, Clinical research, Safety, Adverse effects, Monitoring, Biologics, Immunologic diseases. Allergy, RC581-607
Abstract

Background: Chronic spontaneous urticaria (CSU) is a common condition treated by allergist/immunologists, but the only FDA-approved biologic medication, omalizumab, may be underutilized globally. Objective: This study was performed to determine the global prescription of omalizumab for treatment of CSU by allergists/immunologists. Methods: Anonymous questionnaire surveys were distributed online to World Allergy Organization (WAO) members worldwide. Categorical data were analyzed for descriptive analysis using one-way frequency tabulation in SAS 9.4. Results: There were 348 respondents (43 missing data); Average age 51 (range 28–90); M/F 48%/52%. 58% had > 15 years of clinical experience and 10%

Published
2024
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9. Are pediatricians familiar with hereditary angioedema?

Author

Chong-Neto, Herberto José, Aroni, Bárbara Padilha, Mansour, Eli, Toledo, Eliana, Serpa, Faradiba Sarquis, Arruda, Luisa Karla, Giavina-Bianchi, Pedro, Valle, Solange Oliveira Rodrigues, de Moraes, Caroline Guth de Freitas Batista, Kruk, Tatielly, Chong-Silva, Débora Carla, Solé, Dirceu, Silva, Luciana Rodrigues, Grumach, Anete S., Rosário Filho, Nelson Augusto, and Campos, Régis de Albuquerque

Published
2023
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10. SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience

Author

Barreiros, Lucila Akune, Sousa, Jusley Lira, Geier, Christoph, Leiss-Piller, Alexander, Kanegae, Marilia Pylles Patto, França, Tábata Takahashi, Boisson, Bertrand, Lima, Alessandra Miramontes, Costa-Carvalho, Beatriz Tavares, Aranda, Carolina Sanchez, de Moraes-Pinto, Maria Isabel, Segundo, Gesmar Rodrigues Silva, Ferreira, Janaira Fernandes Severo, Tavares, Fabíola Scancetti, Guimarães, Flávia Alice Timburiba de Medeiros, Toledo, Eliana Cristina, da Matta Ain, Ana Carolina, Moreira, Iramirton Figueirêdo, Soldatelli, Gustavo, Grumach, Anete Sevciovic, de Barros Dorna, Mayra, Weber, Cristina Worm, Di Gesu, Regina Sumiko Watanabe, Dantas, Vera Maria, Fernandes, Fátima Rodrigues, Torgerson, Troy Robert, Ochs, Hans Dietrich, Bustamante, Jacinta, Walter, Jolan Eszter, and Condino-Neto, Antonio

Published
2022
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11. In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation

Author

Mendonça, Leonardo Oliveira, Toledo-Barros, Myrthes Anna Maragna, Leal, Vinicius Nunes Cordeiro, Roa, Mariela Estefany Gislene Vera, Cambuí, Raylane Adrielle Gonçalves, Toledo, Eliana, Barros, Samar Freschi, de Oliveira, Amanda Melato, Rivitti-Machado, Maria Cecília, Francescantonio, Isadora Carvalho Medeiros, Grumach, Anete Sevciovic, de Oliveira Penido, Norma, Castro, Fabio Fernandes Morato, Kalil, Jorge, and Pontillo, Alessandra

Published
2022
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12. Are pediatricians familiar with hereditary angioedema?

Author

Herberto José Chong-Neto, M.D., Ph.D, Bárbara Padilha Aroni, M.D, Eli Mansour, M.D, Ph.D, Eliana Toledo, M.D., Ph.D, Faradiba Sarquis Serpa, M.D., Ph.D, Luisa Karla Arruda, M.D, Ph.D, Pedro Giavina-Bianchi, M.D., Ph.D, Solange Oliveira Rodrigues Valle, M.D., Ph.D, Caroline Guth de Freitas Batista de Moraes, M.T., MSc, Tatielly Kruk, M.T., MSc, Débora Carla Chong-Silva, MD, PhD, Dirceu Solé, M.D., Ph.D, Luciana Rodrigues Silva, M.D., Ph.D, Anete S. Grumach, M.D., Ph.D, Nelson Augusto Rosário Filho, M.D., Ph.D, and Régis de Albuquerque Campos, M.D., Ph.D

Subjects
Angioedema, Hereditary, Pediatrics, Knowledge, Surveys Questionnaires, Immunologic diseases. Allergy, RC581-607
Abstract

Background: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of subcutaneous or mucosal edema caused by excess bradykinin. The aim of the present study was to assess the knowledge of pediatricians about hereditary angioedema. Methods: An online survey with 12 HAE-related and 14 demographics-related questions was e-mailed to all pediatricians who were members of the Brazilian Society of Pediatrics (n = 17 145) once a week during the months of June and July 2021. The electronic questionnaire assessed clinical manifestations, diagnosis, and treatment of hereditary angioedema in children and adolescents. Results: Four hundred and fifty-five pediatricians responded to the questionnaire (2.6%), of whom 55 (12.1%) were board certified in Allergy and Immunology (A/I), while 400 (87.9%) were not (N-A/I). Three hundred and sixty-eight (80.9%) were female, 289 (55.7%) were under 50 years of age, 286 (62.9%) graduated from Medical School more than 10 years previously, 83 (18.2%) held an MSc/PhD degree, and 253 (55.6%) were living in the Southeast Region of Brazil. The median number of correct answers to the questions related to HAE among A/I was 7 out of 12 (58.3%), with median ranging from 4.5 to 8 correct answers, while for N-A/I it was 3 (25%), with median ranging from 2.5 to 4 correct answers (p

Published
2023
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13. Current challenges and future opportunities in patient‐focused management of hereditary angioedema: A narrative review

Author

Anete S. Grumach, Noga Gadir, Aharon Kessel, Ashley Yegin, Inmaculada Martinez‐Saguer, and Jonathan A. Bernstein

Subjects
C1 inhibitor, guidelines, hereditary angioedema, management, quality of life, Immunologic diseases. Allergy, RC581-607
Abstract

Abstract Patients with hereditary angioedema (HAE) experience a high burden of disease due to unpredictable, painful, disfiguring, and potentially life‐threatening HAE attacks. Multiple HAE‐specific medications for the on‐demand treatment, short‐term and long‐term prophylaxis of HAE attacks have entered the market in recent years; however, the availability and access to these medications may vary between different countries. For this review, PubMed and EMBASE databases were searched for guidelines, consensus statements, and other publications on HAE management as well as publications on quality of life in patients with HAE. The current guidelines and recent literature on HAE management in specific countries are summarized with the aim to highlight the similarities and differences between guideline recommendations and the country‐specific clinical practice. Improvement in quality of life, which is a key goal in HAE management, is also discussed and the country‐specific trends are highlighted. Finally, the ways to achieve a more patient‐centric approach to HAE management within the framework set by the clinical management guidelines are examined.

Published
2023
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15. The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

Author

Maurer, Marcus, Magerl, Markus, Betschel, Stephen, Aberer, Werner, Ansotegui, Ignacio J., Aygören-Pürsün, Emel, Banerji, Aleena, Bara, Noémi-Anna, Boccon-Gibod, Isabelle, Bork, Konrad, Bouillet, Laurence, Boysen, Henrik Balle, Brodszki, Nicholas, Busse, Paula J., Bygum, Anette, Caballero, Teresa, Cancian, Mauro, Castaldo, Anthony J., Cohn, Danny M., Csuka, Dorottya, Farkas, Henriette, Gompels, Mark, Gower, Richard, Grumach, Anete S., Guidos-Fogelbach, Guillermo, Hide, Michihiro, Kang, Hye-Ryun, Kaplan, Allen P., Katelaris, Constance H., Kiani-Alikhan, Sorena, Lei, Wei-Te, Lockey, Richard F., Longhurst, Hilary, Lumry, William, MacGinnitie, Andrew, Malbran, Alejandro, Martinez Saguer, Inmaculada, Matta Campos, Juan José, Nast, Alexander, Nguyen, Dinh, Nieto-Martinez, Sandra A., Pawankar, Ruby, Peter, Jonathan, Porebski, Grzegorz, Prior, Nieves, Reshef, Avner, Riedl, Marc, Ritchie, Bruce, Sheikh, Farrukh Rafique, Smith, William B., Spaeth, Peter J., Stobiecki, Marcin, Toubi, Elias, Varga, Lilian Agnes, Weller, Karsten, Zanichelli, Andrea, Zhi, Yuxiang, Zuraw, Bruce, and Craig, Timothy

Published
2022
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17. Efficacy and safety of baricitinib for the treatment of hospitalised adults with COVID-19 (COV-BARRIER): a randomised, double-blind, parallel-group, placebo-controlled phase 3 trial

Author

Ahn, Mi-Young, Akasbi, Miriam, Alatorre-Alexander, Jorge, Altclas, Javier David, Ariel, Federico, Ariza, Horacio Alberto, Atkar, Chandrasekhar, Bertetti, Anselmo, Bhattacharya, Meenakshi, Briones, Maria Luisa, Budhraja, Akshay, Burza, Aaliya, Camacho Ortiz, Adrian, Caricchio, Roberto, Casas, Marcelo, Cevoli Recio, Valeria, Choi, Won Suk, Cohen, Emilia, Comulada-Rivera, Angel, Cook, Paul, Cornejo Juarez, Dora Patricia, Daniel, Carnevali, Degrecci Relvas, Luiz Fernando, Dominguez Cherit, Jose Guillermo, Ellerin, Todd, Enikeev, Dmitry, Erico Tanni Minamoto, Suzana, Estrada, Vicente, Fiss, Elie, Furuichi, Motohiko, Giovanni Luz, Kleber, Goldman, Jason D., Gonzalez, Omar, Gordeev, Ivan, Gruenewald, Thomas, Hamamoto Sato, Victor Augusto, Heo, Eun Young, Heo, Jung Yeon, Hermida, Maria, Hirai, Yuji, Hutchinson, David, Iastrebner, Claudio, Ioachimescu, Octavian, Jain, Manish, Juliani Souza Lima, Maria Patelli, Khan, Akram, Kremer, Andreas E., Lawrie, Thomas, MacElwee, Mark, Madhani-Lovely, Farah, Malhotra, Vinay, Martínez Resendez, Michel Fernando, McKinnell, James, Milligan, Patrick, Minelli, Cesar, Moran Rodriguez, Miguel Angel, Parody, Maria Leonor, Paulin, Priscila, Pellegrini, Rita de Cassia, Pemu, Priscilla, Procopio Carvalho, Ana Carolina, Puoti, Massimo, Purow, Joshua, Ramesh, Mayur, Rea Neto, Alvaro, Robinson, Philip, Rodrigues, Cristhieni, Rojas Velasco, Gustavo, Saraiva, Jose Francisco Kerr, Scheinberg, Morton, Schreiber, Stefan, Scublinsky, Dario, Sevciovic Grumach, Anete, Shawa, Imad, Simon Campos, Jesus, Sofat, Nidhi, Som, Mousumi, Spinner, Christoph D., Sprinz, Eduardo, Stienecker, Roger, Suarez, Jose, Tachikawa, Natsuo, Tahir, Hasan, Tiffany, Brian, Vishnevsky, Alexander, Westheimer Cavalcante, Adilson, Zirpe, Kapil, Marconi, Vincent C, Ramanan, Athimalaipet V, de Bono, Stephanie, Kartman, Cynthia E, Krishnan, Venkatesh, Liao, Ran, Piruzeli, Maria Lucia B, Goldman, Jason D, de Cassia Pellegrini, Rita, Cardoso, Anabela, Chakladar, Sujatro, Crowe, Brenda, Reis, Paulo, Zhang, Xin, Adams, David H, and Ely, E Wesley

Published
2021
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18. Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study

Author

Goudouris, Ekaterini Simões, Pinto-Mariz, Fernanda, Mendonça, Leonardo Oliveira, Aranda, Carolina Sanchez, Guimarães, Rafaela Rolla, Kokron, Cristina, Barros, Myrthes Toledo, Anísio, Flávia, Alonso, Maria Luiza Oliva, Marcelino, Fernanda, Valle, Solange Oliveira Rodrigues, Junior, Sergio Dortas, Barreto, Irma Douglas Paes, Ferreira, Janáira Fernandes Severo, Roxo-Junior, Pérsio, do Rego Silva, Almerinda Maria, Campinhos, Fernanda Lugão, Bonfim, Carmem, Loth, Gisele, Fernandes, Juliana Folloni, Garcia, Julia Lopes, Capelo, Albertina, Takano, Olga Akiko, Nadaf, Maria Isabel Valdomir, Toledo, Eliana C., Cunha, Luciana Araújo Oliveira, Di Gesu, Regina Sumiko Watanabe, Schidlowski, Laire, Fillipo, Priscila, Bichuetti-Silva, Daniélli C., Soldateli, Gustavo, Ferraroni, Natasha Rebouças, de Oliveira Dantas, Ellen, Pestana, Simone, Mansour, Eli, Ulaf, Raisa Gusso, Prando, Carolina, Condino-Neto, Antonio, and Grumach, Anete Sevciovic

Published
2021
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19. Serological and molecular epidemiology of the Dengue, Zika and Chikungunya viruses in a risk area in Brazil

Author

Magaly Lima Mota, Robson dos Santos Souza Marinho, Rodrigo Lopes Sanz Duro, James Hunter, Irwin Rose Alencar de Menezes, João Marcos Ferreira de Lima Silva, Glaubervânio Leite Tavares Pereira, Ester Cerdeira Sabino, Anete Grumach, Ricardo Sobhie Diaz, Maria do Socorro Lucena, and Shirley Vasconcelos Komninakis

Subjects
Epidemiology, Dengue, Zika, Chikungunya, Brazil, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background The co-circulation of types of arbovirus in areas where they are endemic increased the risk of outbreaks and limited the diagnostic methods available. Here, we analyze the epidemiological profile of DENV, CHIKV and ZIKV at the serological and molecular level in patients with suspected infection with these arboviruses in the city of Juazeiro do Norte, Ceará, Brazil. Methods In 2016, the Central Public Health Laboratory (LACEN) of Juazeiro do Norte received 182 plasma samples from patients who visited health facilities with symptoms compatible with arbovirus infection. The LACEN performed serological tests for detection of IgM/IgG to DENV and CHIKV. They then sent these samples to the Retrovirology Laboratory of the Federal University of São Paulo and Faculty of Medical of the ABC where molecular analyses to confirm the infection by DENV, ZIKV and CHIKV were performed. The prevalence of IgM/IgG antibodies and of infections confirmed by RT-qPCR were presented with 95% confidence interval. Results In serologic analysis, 125 samples were positive for antibodies against CHIKV and all were positive for antibodies against DENV. A higher prevalence of IgG against CHIKV (63.20% with 95% CI: 45.76–70.56) than against DENV (95.05% with 95% CI: 78.09–98.12) was observed. When the samples were submitted to analysis by RT-qPCR, we observed the following prevalence: mono-infection by ZIKV of 19.23% (95% CI: 14.29–34.82) patients, mono-infection by CHIKV of 3.84% (95% CI: 2.01–5.44) and co-infection with ZIKV and CHIKV of 1.09% (95% CI: 0.89–4.56). Conclusion The serologic and molecular tests performed in this study were effective in analyzing the epidemiological profile of DENV, CHIKV and ZIKV in patients with suspected infection by these arboviruses in the city of Juazeiro do Norte, Ceará/Brazil.

Published
2021
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21. The Panorama of Primary Angioedema in the Brazilian Population

Author

Cagini, Nathália, Mansour, Eli, da Silva, Jane, Giavina-Bianchi, Pedro, Teixeira, Ana Júlia, Valle, Solange Rodrigues, Goudouris, Ekaterini, Serpa, Faradiba Sarquis, Moyses, Therezinha R., Campinhos, Fernanda Lugão, Ensina, Luis Felipe, Aranda, Carolina Sánchez, Rizzo, Maria Cândida, Campos, Régis A., Gonçalves, Rozana Fátima, Minafra, Fernanda Gontijo, de Souza Bernardes, Marli, Chong-Neto, Herberto José, Filho, Nelson Rosário, Guth, Carolina, Toledo, Eliana, Coelho Dias, Gabriela Andrade, Piccirillo, Miguel Alberto, Severo Ferreira, Janáira Fernandes, Marcelino, Fernanda Casares, da Rocha Rolins Neto, Pedro, Franco, Jackeline Motta, Pafume de Sá, Gustavo, Garro, Laila Sabino, Carolina da Matta Ain, Ana, Velasco, Helena F., Fernandes Carvalho, Ellaine Dóris, Fernandes Carvalho de Andrade, Maria Denise, Boll, Cristiane Alves, Ferraroni, Natasha Rebouças, Martins Pinto Swensson, Ana Carolina, Vilela Rabelo, Leandro Augusto, Pacheco de Figueiredo, Joanemile, Figueredo, Raphael Coelho, Mendes, Ronney Corrêa, Sales, Valéria S.F., Bacarini Leite, Luiz Fernando, Beltran Moschione Castro, Ana Paula, Ferreira Mascarenhas, Elke C., Teixeira, Thais Bomfim, Campos Teixeira, Camila A., Pereira de Lira Marques, Adriana, Pires Amaral Resende, Ludmilla Luzia, Sandrin, Leda das Neves Almeida, Tavares, Clarissa Soares, Veronez, Camila Lopes, Mendes, Agatha Ribeiro, Leite, Caroliny Souza, Gomes, Caio Perez, Grumach, Anete Sevciovic, and Pesquero, João Bosco

Published
2021
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24. The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation.

Author

Buttgereit, T., Aulenbacher, F., Gutsche, A., Kolkhir, P., Weller, K., Vera Ayala, C., Magerl, M., Farkas, H., Grumach, A. S., Aygören‐Pürsün, E., Bara, N., Ben‐Shoshan, M., Bernstein, J., Betschel, S., Bouillet, L., Caballero, T., Cancian, M., Castaldo, A. J., Cimbollek, S., and Cohn, D. M.

Subjects
SCIENTIFIC knowledge, RESEARCH personnel, MEDICAL research personnel, ADVISORY boards, RESEARCH grants
Abstract

The Chronic Angioedema Registry (CARE) is an international disease registry that aims to improve patient care for recurrent angioedema. It collects data through questionnaires completed by physicians and patients to assess disease control, quality of life, and treatment responses. However, the outcomes may not apply to less severe cases typically seen in primary care or community settings, and the findings may not be generalizable to patients from diverse ethnic backgrounds. The document also lists conflicts of interest for authors involved in the CARE study, who have disclosed financial relationships with pharmaceutical companies and other organizations. The study received approval from the Ethics Committee of Charité—Universitätsmedizin Berlin. [Extracted from the article]

Published
2024
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25. International Consensus on the Use of Genetics in the Management of Hereditary Angioedema

Author

Andrejevic, Sladjana, Aygören-Pürsün, Emel, Bara, Noemi-Anna, Bernstein, Jonathan, Bork, Konrad, Bouillet, Laurence, Bova, Maria, Boysen, Henrik Halle, Bygum, Anette, Caballero, Teresa, Castaldo, Anthony, Christiansen, Sandra, Cicardi, Marco, Fabiani, Jose, Katelaris, Connie, Dewald, Georg, Gökmen, Nihal M., Gonzalez-Quevedo, Maria Teresa, Gooi, Jimmy, Grivcheva-Panovska, Vesna, Grumach, Anete, Hakl, Roman, Hardy, Gaelle, Jesenak, Milos, Kaplan, Allen, Kirschfink, Michael, Köhalmi, Kinga Viktoria, Leibovich, Iris, Longhurst, Hilary J., Lumry, William, Magerl, Markus, Saguer, Inmaculada Martinez, Nagy, Imola Beatrix, Nieto, Sandra, Nordenfelt, Patrik, Porębski, Grzegorz, Psarros, Fotis, Reshef, Avner, Riedl, Marc A., Sheikh, Farrukh, Peter, Spath, Speletas, Matthaios, Staevska, Maria, Stobiecki, Marcin, Triggiani, Massimo, Veszeli, Nora, Waserman, Susan, Weber, Christina, Wuillemin, Walter, Zuraw, Bruce, Germenis, Anastasios E., Margaglione, Maurizio, Pesquero, João Bosco, Farkas, Henriette, Cichon, Sven, Csuka, Dorottya, Lera, Alberto López, Rijavec, Matija, Jolles, Stephen, Szilagyi, Agnes, Trascasa, Margarita López, Veronez, Camila Lopes, Drouet, Christian, and Zamanakou, Maria

Published
2020
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26. The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

Author

Marcus Maurer, MD, Markus Magerl, MD, Stephen Betschel, MD, Werner Aberer, MD, Ignacio J. Ansotegui, MD, PhD, Emel Aygören-Pürsün, MD, Aleena Banerji, MD, Noémi-Anna Bara, MD, Isabelle Boccon-Gibod, MD, Konrad Bork, MD, Laurence Bouillet, Pr, MD, PhD, Henrik Balle Boysen, Nicholas Brodszki, MD, PhD, Paula J. Busse, MD, Anette Bygum, MD, DMSci, Teresa Caballero, MD, PhD, Mauro Cancian, MD, PhD, Anthony J. Castaldo, Danny M. Cohn, MD, PhD, Dorottya Csuka, MD, Henriette Farkas, MD, PhD, DSc, Mark Gompels, MBBS, BSc, MD, Richard Gower, MD, Anete S. Grumach, MD, PhD, Guillermo Guidos-Fogelbach, MD, PhD, Michihiro Hide, MD, PhD, Hye-Ryun Kang, MD, PhD, Allen P. Kaplan, MD, Constance H. Katelaris, MBBS, PhD, Sorena Kiani-Alikhan, PhD, Wei-Te Lei, MD, Richard F. Lockey, MD, Hilary Longhurst, PhD, William Lumry, MD, Andrew MacGinnitie, MD, PhD, Alejandro Malbran, MD, PhD, Inmaculada Martinez Saguer, MD, Juan José Matta Campos, MD, Alexander Nast, MD, Dinh Nguyen, MD, PhD, Sandra A. Nieto-Martinez, MD, Ruby Pawankar, MD, PhD, Jonathan Peter, MB ChB, MMed, FCP (SA), PhD, Grzegorz Porebski, MD, Nieves Prior, MD, PhD, Avner Reshef, MD, Marc Riedl, MD, Bruce Ritchie, MD, Farrukh Rafique Sheikh, MBBS, William B. Smith, MBBS, PhD, Peter J. Spaeth, PhD, Marcin Stobiecki, MD, Elias Toubi, MD, Lilian Agnes Varga, PhD, Karsten Weller, MD, Andrea Zanichelli, MD, Yuxiang Zhi, MD, Bruce Zuraw, MD, and Timothy Craig, MD

Subjects
Hereditary angioedema, C1-inhibitor, diagnosis, GRADE therapy, management, disease control, Immunologic diseases. Allergy, RC581-607
Abstract

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, developed 28 recommendations, and established consensus by an online DELPHI process. The goal of these recommendations and guideline is to help physicians and their patients in making rational decisions in the management of HAE with deficient C1-inhibitor (type 1) and HAE with dysfunctional C1-inhibitor (type 2), by providing guidance on common and important clinical issues, such as: 1) How should HAE be diagnosed? 2) When should HAE patients receive prophylactic on top of on-demand treatment and what treatments should be used? 3) What are the goals of treatment? 4) Should HAE management be different for special HAE patient groups such as children or pregnant/breast feeding women? 5) How should HAE patients monitor their disease activity, impact, and control? It is also the intention of this guideline to help establish global standards for the management of HAE and to encourage and facilitate the use of recommended diagnostics and therapies for all patients.

Published
2022
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27. Pregnancy in Patients With Hereditary Angioedema and Normal C1 Inhibitor

Author

Natalia Gabriel, Fernanda Marcelino, Mariana P. L. Ferriani, L. Karla Arruda, Regis A. Campos, Rozana F. Gonçalves, Herberto Chong-Neto, Nelson Rosario Filho, Solange O. R. Valle, Joao B. Pesquero, and Anete S. Grumach

Subjects
pregnancy, hereditary angioedema, hereditary angioedema with normal C1 inhibitor, FXII, mutation, Immunologic diseases. Allergy, RC581-607
Abstract

BackgroundHAE with normal C1 inhibitor (HAE-nC1-INH) has been identified as a bradykinin mediated angioedema. Estrogens are one of the main trigger factors. Pregnancy in HAE with C1 inhibitor deficiency showed variable course, however, few reports are available for HAE-nC1-INH. We evaluated the course of pregnancies in women diagnosed with HAE-nC1-INH.MethodsWomen with diagnosis of HAE-nC1-INH according to the following criteria: clinical manifestations similar to HAE-C1-INH, normal biochemical evaluation and family history were included. A questionnaire about pregnancies was applied after consent. Genetic evaluation for known mutations was performed in all patients.ResultsA total of 45 pregnancies occurring in 26 HAE-nC1-INH patients were evaluated (7/26 patients with F12 variant). Spontaneous abortion was reported in 8/45 (17.8%) pregnancies. Onset of attacks started before the pregnancy in 18/26 patients; during the pregnancy in 2/26; and after the pregnancy in 6/26. HAE attacks occurred in 24/37 pregnancies (64,7%): during the 1st trimester in 41.7%; 2nd trimester in 12.5%; 3rd trimester in 20.8%; 1st and 3rd trimesters in 4.2% and during the whole pregnancy in 20.8%. Among 15/18 patients who had attacks before pregnancy, symptoms persisted with worsening in 9/15; improvement in 4/15; no change in 1/15, and no response in 1/15.ConclusionsThe occurrence of abortion in HAE-nC1-INH was similar to the expected for not affected women. The 1st trimester of the pregnancy was more symptomatic for HAE-nC1-INH women. Considering the strong relevance of estrogens in HAE-nC1-INH, pregnancy could worsen the course of disease.

Published
2022
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29. Angioedema Without Wheals: Challenges in Laboratorial Diagnosis

Author

Anete S. Grumach, Camila L. Veronez, Dorottya Csuka, and Henriette Farkas

Subjects
hereditary angioedema (HAE), angioedema without wheals, C1 inhibitor (C1-INH), C4, biomarker, diagnosis, Immunologic diseases. Allergy, RC581-607
Abstract

Angioedema is a prevailing symptom in different diseases, frequently occurring in the presence of urticaria. Recurrent angioedema without urticaria (AE) can be hereditary (HAE) and acquired (AAE), and several subtypes can be distinguished, although clinical presentation is quite similar in some of them. They present with subcutaneous and mucosal swellings, affecting extremities, face, genitals, bowels, and upper airways. AE is commonly misdiagnosed due to restricted access and availability of appropriate laboratorial tests. HAE with C1 inhibitor defect is associated with quantitative and/or functional deficiency. Although bradykinin-mediated disease results mainly from disturbance in the kallikrein–kinin system, traditionally complement evaluation has been used for diagnosis. Diagnosis is established by nephelometry, turbidimetry, or radial immunodiffusion for quantitative measurement of C1 inhibitor, and chromogenic assay or ELISA has been used for functional C1-INH analysis. Wrong handling of the samples can lead to misdiagnosis and, consequently, mistaken inappropriate approaches. Dried blood spot (DBS) tests have been used for decades in newborn screening for certain metabolic diseases, and there has been growing interest in their use for other congenital conditions. Recently, DBS is now proposed as an efficient tool to diagnose HAE with C1 inhibitor deficiency, and its use would improve the access to outbound areas and family members. Regarding HAE with normal C1 inhibitor, complement assays’ results are normal and the genetic sequencing of target genes, such as exon 9 of F12 and PLG, is the only available method. New methods to measure cleaved high-molecular-weight kininogen and activated plasma kallikrein have emerged as potential biochemical tests to identify bradykinin-mediated angioedema. Validated biomarkers of kallikrein–kinin system activation could be helpful in differentiating mechanisms of angioedema. Our aim is to focus on the capability to differentiate histaminergic AE from bradykinin-mediated AE. In addition, we will describe the challenges developing specific tests like direct bradykinin measurements. The need for quality tests to improve the diagnosis is well represented by the variability of results in functional assays.

Published
2021
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31. Latin American consensus on the supportive management of patients with severe combined immunodeficiency

Author

Bustamante Ogando, Juan Carlos, Partida Gaytán, Armando, Aldave Becerra, Juan Carlos, Álvarez Cardona, Aristóteles, Bezrodnik, Liliana, Borzutzky, Arturo, Blancas Galicia, Lizbeth, Cabanillas, Diana, Condino-Neto, Antonio, De Colsa Ranero, Agustín, Espinosa Padilla, Sara, Fernandes, Juliana Folloni, García Campos, Jorge Alberto, Gómez Tello, Héctor, González Serrano, María Edith, Gutiérrez Hernández, Alonso, Hernández Bautista, Víctor Manuel, Ivankovich Escoto, Gabriele, King, Alejandra, Lessa Mazzucchelli, Juliana, Llamas Guillén, Beatriz Adriana, Lugo Reyes, Saul Oswaldo, Moreno Espinosa, Sarbelio, Oleastro, Matías, Otero Mendoza, Francisco, Poli Harlowe, María Cecilia, Porras, Oscar, Ramirez Uribe, Nideshda, Regairaz, Lorean, Rivas Larrauri, Francisco, Saracho Weber, Federico José, Grumach, Anete S., Staines Boone, Tamara, Tavares Costa-Carvalho, Beatriz, Yamazaki Nakashimada, Marco Antonio, and Espinosa Rosales, Francisco Javier

Published
2019
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33. The International/Canadian Hereditary Angioedema Guideline

Author

Stephen Betschel, Jacquie Badiou, Karen Binkley, Rozita Borici-Mazi, Jacques Hébert, Amin Kanani, Paul Keith, Gina Lacuesta, Susan Waserman, Bill Yang, Emel Aygören-Pürsün, Jonathan Bernstein, Konrad Bork, Teresa Caballero, Marco Cicardi, Timothy Craig, Henriette Farkas, Anete Grumach, Connie Katelaris, Hilary Longhurst, Marc Riedl, Bruce Zuraw, Magdelena Berger, Jean-Nicolas Boursiquot, Henrik Boysen, Anthony Castaldo, Hugo Chapdelaine, Lori Connors, Lisa Fu, Dawn Goodyear, Alison Haynes, Palinder Kamra, Harold Kim, Kelly Lang-Robertson, Eric Leith, Christine McCusker, Bill Moote, Andrew O’Keefe, Ibraheem Othman, Man-Chiu Poon, Bruce Ritchie, Charles St-Pierre, Donald Stark, and Ellie Tsai

Subjects
Hereditary angioedema, Guideline, Recommendations, Pediatrics, Pregnancy, Acute attacks, Immunologic diseases. Allergy, RC581-607
Abstract

Abstract This is an update to the 2014 Canadian Hereditary Angioedema Guideline with an expanded scope to include the management of hereditary angioedema (HAE) patients worldwide. It is a collaboration of Canadian and international HAE experts and patient groups led by the Canadian Hereditary Angioedema Network. The objective of this guideline is to provide evidence-based recommendations, using the GRADE system, for the management of patients with HAE. This includes the treatment of attacks, short-term prophylaxis, long-term prophylaxis, and recommendations for self-administration, individualized therapy, quality of life, and comprehensive care. New to the 2019 version of this guideline are sections covering the diagnosis and recommended therapies for acute treatment in HAE patients with normal C1-INH, as well as sections on pregnant and paediatric patients, patient associations and an HAE registry. Hereditary angioedema results in random and often unpredictable attacks of painful swelling typically affecting the extremities, bowel mucosa, genitals, face and upper airway. Attacks are associated with significant functional impairment, decreased health-related quality of life, and mortality in the case of laryngeal attacks. Caring for patients with HAE can be challenging due to the complexity of this disease. The care of patients with HAE in Canada, as in many countries, continues to be neither optimal nor uniform. It lags behind some other countries where there are more organized models for HAE management, and greater availability of additional licensed therapeutic options. It is anticipated that providing this guideline to caregivers, policy makers, patients, and advocates will not only optimize the management of HAE, but also promote the importance of individualized care. The primary target users of this guideline are healthcare providers who are managing patients with HAE. Other healthcare providers who may use this guideline are emergency and intensive care physicians, primary care physicians, gastroenterologists, dentists, otolaryngologists, paediatricians, and gynaecologists who will encounter patients with HAE and need to be aware of this condition. Hospital administrators, insurers and policy makers may also find this guideline helpful.

Published
2019
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34. Elderly versus younger patients with hereditary angioedema type I/II: patient characteristics and safety analysis from the Icatibant Outcome Survey

Author

Anette Bygum, Teresa Caballero, Anete S. Grumach, Hilary J. Longhurst, Laurence Bouillet, Werner Aberer, Andrea Zanichelli, Jaco Botha, Irmgard Andresen, Marcus Maurer, and for the IOS Study Group

Subjects
Hereditary angioedema, Icatibant Outcome Survey, Safety, Elderly, Immunologic diseases. Allergy, RC581-607
Abstract

Abstract Background Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling in subcutaneous or submucosal tissues. Symptoms often begin by age 5–11 years and worsen during puberty, but attacks can occur at any age and recur throughout life. Disease course in elderly patients is rarely reported. Methods The Icatibant Outcome Survey (IOS) is an observational study evaluating the safety, tolerability, and efficacy of icatibant. We conducted descriptive analyses in younger (age

Published
2019
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35. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families

Author

Veronez, Camila Lopes, Moreno, Adriana S., Constantino-Silva, Rosemeire Navickas, Maia, Luana S.M., Ferriani, Mariana P.L., Castro, Fábio F.M., Valle, Solange Rodrigues, Nakamura, Victor Koji, Cagini, Nathália, Gonçalves, Rozana Fátima, Mansour, Eli, Serpa, Faradiba Sarquis, Coelho Dias, Gabriela Andrade, Piccirillo, Miguel Alberto, Toledo, Eliana, de Souza Bernardes, Marli, Cichon, Sven, Stieber, Christiane, Arruda, L. Karla, Pesquero, João Bosco, and Grumach, Anete Sevciovic

Published
2018
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36. Inborn errors of immunity associated with characteristic phenotypes

Author

Maine Luellah Demaret Bardou, Marina Teixeira Henriques, and Anete Sevciovic Grumach

Subjects
Immunodeficiencies, DNA repair deficiency, Thymic defect, NEMO, PNP, Wiskott-Aldrich, Pediatrics, RJ1-570
Abstract

Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the last 10 years that allowed the characterization of the several immunological defects included in this group. Data synthesis: Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups. The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency and purine nucleoside phosphorylase deficiency were addressed. Conclusions: Immunological defects can present with very different characteristics; however, the occurrence of infectious processes, autoimmune disorders and progression to malignancy may suggest diagnostic research. In the case of diseases with gene mutations, family history is of utmost importance.

Published
2021
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37. Inborn Errors of Immunity: how to diagnose them?

Author

Anete Sevciovic Grumach and Ekaterini Simões Goudouris

Subjects
Immunological evaluation, Immunodeficiencies, Inborn Errors of Immunity, Diagnosis, Investigation, Laboratory tests, Pediatrics, RJ1-570
Abstract

Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to update the investigation of immunological competence in the context of primary defects of the immune system. Source of data: Searches were carried out on Pubmed to review articles published in the last five years, in English, French or Spanish, using the terms “diagnosis” OR “investigation” AND “immunodeficiency” or “primary immunodeficiency” or “inborn errors of immunity” NOT “HIV”. Recent textbook editions have also been consulted. Summary of findings: The immune system competence investigation should be started based on clinical phenotypes. Relevant data are: characterization of infectious conditions (location, recurrence, types of infectious agents, response to treatment), age during symptom onset and associated manifestations (growth impairment, allergy, autoimmunity, malignancies, fever and signs of inflammation without the identification of infection or autoimmunity) and family history. These data contribute to the selection of tests to be performed. Conclusions: The diagnostic investigation of Inborn Errors of Immunity should be guided by the clinical characterization of patients, aiming to optimize the use of complementary tests. Many diagnoses are attained only through genetic tests, which are not always available. However, the absence of a diagnosis of certainty should never delay the implementation of therapeutic measures that preserve patient life and health.

Published
2021
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38. Hanseniasis in the municipality of Western Amazon (Acre, Brazil): are we far from the goal of the World Health Organization?

Author

Francisco A. Araújo, Luiz C. Abreu, Gabriel Z. Laporta, Vinicius S. Santos, Jose G.V. Moreira, and Anete S. Grumach

Subjects
Hanseniasis, Epidemiology, Eradication, Contacts, Brazil, Infectious and parasitic diseases, RC109-216, Microbiology, QR1-502
Abstract

Background: Hanseniasis is a public health concern in developing countries. Although a decrease in the number of new cases in Brazil has been reported, there is a prevalence above that recommended in some regions. Aims: Considering the goal of the World Health Organization (WHO) to accelerate towards a leprosy-free world from 2020, the aim of this study was to analyze the epidemiological profile and leprosy trends in the city of Cruzeiro do Sul, Acre, Brazil. Methods: This retrospective cohort study analyzed the epidemiology and trends of hanseniasis between 2005 and 2018, monitoring socioeconomic and clinical epidemiological variables obtained from the Information System of Notifiable Diseases of Hanseniasis (SINAN) database. Results: A total of 422 cases of hanseniasis (284 male, 138 female) were included. The questionnaire of six patients was incomplete. The highest number of cases (89) was recorded in 2006 (11.7/10,000 inhabitants). The borderline clinical form was most common, with 45.4% of cases. Throughout the historical series, the rate of annual percentage change in the detection of new cases and cases with grade 2 disability showed a decreasing profile, at −13.9 [95% CI: −19.1, −8.2] and −13.1 [95% CI: −21.8, −5.5], respectively. The same rates were observed in patients below 15 years of age. Limitations: This study reflects the scenario in one reference center and data were obtained retrospectively. Conclusions: The incidence of hanseniasis in this reference center is declining gradually; however, the indicators show active disease transmission and late diagnosis.

Published
2021
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39. The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update

Author

Maurer, Marcus, Magerl, Markus, Ansotegui, Ignacio, Aygören-Pürsün, Emel, Betschel, Stephen, Bork, Konrad, Bowen, Tom, Boysen, Henrik Balle, Farkas, Henriette, Grumach, Anete S., Hide, Michihiro, Katelaris, Constance, Lockey, Richard, Longhurst, Hilary, Lumry, William R., Martinez-Saguer, Inmaculada, Moldovan, Dumitru, Nast, Alexander, Pawankar, Ruby, Potter, Paul, Riedl, Marc, Ritchie, Bruce, Rosenwasser, Lanny, Sánchez-Borges, Mario, Zhi, Yuxiang, Zuraw, Bruce, and Craig, Timothy

Published
2018
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40. Serum Levels of Ficolin-3 and Mannose-Binding Lectin in Patients with Leprosy and Their Family Contacts in a Hyperendemic Region in Northeastern Brazil

Author

Francisca Jacinta Feitoza de Oliveira, Maria Aparecida Alves de Oliveira Serra, Leonardo Hunaldo dos Santos, Márcio Flávio Moura de Araújo, Rosemeire Navickas Constantino da Silva, and Anete Sevciovic Grumach

Subjects
leprosy, infectious diseases, tropical disease, neglected disease, complement pathway, mannose-binding lectin, Medicine
Abstract

The present study aimed at analyzing the serum levels of mannose-binding lectin (MBL) and ficolin-3 (FCN3) in leprosy patients and their healthy family contacts in a hyperendemic region in northeastern Brazil. A cross-sectional study was carried out with 90 patients who had been diagnosed with leprosy and 79 healthy family contacts. Serum levels of the MBL and FCN3 proteins were measured using the immunofluorometric assay (ELISA). Clinical information was determined from the patients’ charts. It was observed that the leprosy patients were more likely to be male (OR = 2.17; p = 0.01) and younger than fifteen years of age (OR = 2.01; p = 0.03) when compared to the family contacts. Those under 15 years of age had higher levels of MBL (4455 ng/mL) than those over 15 years of age (2342 ng/mL; p = 0.018). Higher FCN3 levels were identified in patients with indeterminate leprosy (41.9 µg/mL) compared to those with the lepromatous form (34.3 µg/mL; p = 0.033) and in those with no physical disabilities (38.1 µg/mL) compared to those with some disability (p = 0.031). Higher FCN3 levels were also observed in the group of patients without leprosy reactions (37.4 µg/mL) compared to those with type 1 (33.7 µg/mL) and type 2 (36.1 µg/mL) reactions. The MBL levels were higher in children under 15 years of age than they were in adults. It was evidenced that higher FCN3 serum levels were associated with early and transient clinical forms and lower expression in severe forms of leprosy.

Published
2022
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43. Improvement in diagnostic delays over time in patients with hereditary angioedema: findings from the Icatibant Outcome Survey

Author

Andrea Zanichelli, Markus Magerl, Hilary J. Longhurst, Werner Aberer, Teresa Caballero, Laurence Bouillet, Anette Bygum, Anete S. Grumach, Jaco Botha, Irmgard Andresen, Marcus Maurer, and the IOS Study Group

Subjects
Hereditary angioedema, HAE, C1-INH-HAE, Diagnosis, Delay in diagnosis, Immunologic diseases. Allergy, RC581-607
Abstract

Abstract The objective of this analysis was to evaluate the change over time in age at first symptoms, age at diagnosis, and delay in diagnosis using data from the Icatibant Outcome Survey (IOS). Patients with a diagnosis of C1-INH-HAE who were born before the year 1990 and who were diagnosed before they reached 25 years of age were included in the analysis. Both age at diagnosis and delay in diagnosis of C1-INH-HAE appear to decline with later decade of birth, despite wide variation across the countries assessed, suggesting that improved disease awareness causes increased rates of earlier diagnosis over time. Our findings demonstrate that some patients are still experiencing long delays to diagnosis, indicating an ongoing need for improved disease awareness.

Published
2018
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45. Correction to: The International/Canadian Hereditary Angioedema Guideline

Author

Betschel, Stephen, Badiou, Jacquie, Binkley, Karen, Borici-Mazi, Rozita, Hébert, Jacques, Kanani, Amin, Keith, Paul, Lacuesta, Gina, Waserman, Susan, Yang, Bill, Aygören-Pürsün, Emel, Bernstein, Jonathan, Bork, Konrad, Caballero, Teresa, Cicardi, Marco, Craig, Timothy, Farkas, Henriette, Grumach, Anete, Katelaris, Connie, Longhurst, Hilary, Riedl, Marc, Zuraw, Bruce, Berger, Magdelena, Boursiquot, Jean-Nicolas, Boysen, Henrik, Castaldo, Anthony, Chapdelaine, Hugo, Connors, Lori, Fu, Lisa, Goodyear, Dawn, Haynes, Alison, Kamra, Palinder, Kim, Harold, Lang-Robertson, Kelly, Leith, Eric, McCusker, Christine, Moote, Bill, O’Keefe, Andrew, Othman, Ibraheem, Poon, Man-Chiu, Ritchie, Bruce, St-Pierre, Charles, Stark, Donald, and Tsai, Ellie

Published
2020
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47. Abstracts from the 10th C1-inhibitor deficiency workshop

Author

Alvin H. Schmaier, Marco Cicardi, Avner Reshef, Dumitru Moldovan, Attila Mócsai, Margarita López-Trascasa, Alberto López Lera, Nancy J. Brown, Anastasios E. Germenis, Rafael Filippelli-Silva, Diego A. Duarte, Renan P. Martin, Camila L. Veronez, Michel Bouvier, Michael Bader, Claudio M. Costa-Neto, João Bosco Pesquero, Xavier Charest-Morin, François Marceau, Georges-É. Rivard, Arnaud Bonnefoy, Éric Wagner, Márta L. Debreczeni, Zsuzsanna Németh, Erika Kajdácsi, Endre Schwaner, László Cervenak, Gábor Oroszlán, András Szilágyi, Ráhel Dani, Péter Závodszky, Péter Gál, József Dobó, Jacques Hébert, Matthieu Vincent, Jean-Nicolas Boursiquot, Hugo Chapdeleine, Marylin Desjardins, Benoit Laramée, Rémi Gagnon, Nancy Payette, Oleksandra Lepeshkina, Delphine Charignon, Arije Ghannam, Denise Ponard, Christian Drouet, Kusumam Joseph, Baby G. Tholanikunnel, Daniel J. Sexton, Allen P. Kaplan, Stefania Loffredo, Maria Bova, Anne Lise Ferrara, Angelica Petraroli, Chiara Suffritti, Nóra Veszeli, Andrea Zanichelli, Henriette Farkas, Gianni Marone, Samuel Luyasu, Bertrand Favier, Ludovic Martin, Kinga Viktória Kőhalmi, György Temesszentandrási, Katalin Várnai, Lilian Varga, Bruce L. Zuraw, Annette Feussner, Michael A. Tortorici, Dipti Pawaskar, Huamin Henry Li, John Anderson, Jonathan A. Bernstein, Ying Zhang, Ingo Pragst, on behalf of COMPACT investigators, Emel Aygören-Pürsün, Kraig Jacobson, Jim Christensen, Arthur Van Leerberghe, Yi Wang, Jennifer Schranz, Inmaculada Martinez-Saguer, Daniel Soteres, Urs Steiner, Vesna Grivcheva Panovska, William Rae, Werner Aberer, Aarnoud Huissoon, Anette Bygum, Markus Magerl, Jochen Graff, Hilary Longhurst, Ramón Lleonart, Lei Fang, Melanie Cornpropst, Desiree Clemons, Amanda Mathis, Phil Collis, Sylvia Dobo, William P. Sheridan, Marcus Maurer, Marc A. Riedl, Timothy Craig, Aleena Banerji, Mustafa Shennak, William Yang, Jovanna Baptista, Paula Busse, Ira Kalfus, Andrew McDonald, Shawn Qian, Anthony Roberts, Con Panousis, Tim Green, Andreas Gille, Maria Zamanakou, Gedeon Loules, Dorottya Csuka, Fotis Psarros, Faidra Parsopoulou, Matthaios Speletas, Davide Firinu, Tiziana Maria Angela De Pasquale, Alessandra Zoli, Anna Radice, Stefano Pizzimenti, Emmanouil Manoussakis, George N. Konstantinou, Valeria Bafunno, Vincenzo Montinaro, Mauro Cancian, Maurizio Margaglione, Konrad Bork, Karin Wulff, Guenther Witzke, Jochen Hardt, Laurence Bouillet, Teresa Caballero, Anete S. Grumach, Christelle Pommie, Irmgard Andresen, Carmen Escuriola Ettingshausen, Zeynep Gutowski, Karin Andritschke, Richard Linde, Noémi Andrási, Tamás Szilágyi, Iris Leibovich-Nassi, Christine Symons, John Dempster, Isabelle Boccon-Gibod, Anne Pagnier, Audrey Lehmann, Kristian B. Kreiberg, Sandra A. Nieto, Raquel Martins, Renata Martins, Alejandra Menendez, Solange O. R. Valle, Margarita Olivares, Maria E. Hernandez-Landeros, Elma Nievas, Natalia Fili, Olga M. Barrera, René Bailleau, Ana Maria Gallardo-Olivos, Masumi Grau, Julian Rodriguez-Galindo, Marlon J. O. Carabantes, Edison Zapata-Venegas, Mario Martinez Alfonso, Maria Rosario-Grauert, Manuel Ratti, Daniel Vaszquez, Dario Josviack, Luis Fernando Landivar-Salinas, Oscar M. E. Calderón-Llosa, Rolando Campilay-Sarmiento, Pablo Raby, Jose Fabiani, William R. Lumry, Henrike Feuersenger, Douglas J. Watson, Thomas Machnig, on behalf of the Investigators of the COMPACT study, Donatella Lamacchia, Adriana Hernanz, Ana Alvez, Mariana Lluncor, Maria Pedrosa, Rosario Cabañas, Nieves Prior, Patrik Nordenfelt, Mats Nilsson, Anders Lindfors, Carl-Fredrik Wahlgren, Janne Björkander, Roman Hakl, Pavel Kuklínek, Irena Krčmová, Jana Hanzlíková, Martina Vachová, Radana Zachová, Marta Sobotková, Jana Strenková, Jiří Litzman, Maria Palasopoulou, Gerasimina Tsinti, Panagiota Gianni, Maria Kompoti, Sofia Garrido, Wojciech Dyga, Anna Bogdali, Aleksander Obtułowicz, Mikolajczyk Tomasz, Ewa Czarnobilska, Krystyna Obtulowicz, Teofila Książek, Anna Koncz, Dominik Gulyás, Maria Staevska, Milos Jesenak, Katarina Hrubiskova, L. Bellizzi, A. Relan, Maddalena A. Wu, Antonio Castelli, Riccardo Colombo, Gianmarco Podda, Marta Del Medico, Emanuele Catena, Francesco Casella, Francesca Perego, Nada Afifi Afifi, Eleonora Tobaldini, Nicola Montano, for the IOS Study Group, Marta Sánchez-Jareño, Marcin Stobiecki, Krystyna Obtułowicz, Irina Guryanova, Ekaterina Polyakova, Viktar Lebedz, Andrej Salivonchik, Svetlana Aleshkevich, Mikhail Belevtsev, Melanie Nordmann-Kleiner, Susanne Trainotti, Janina Hahn, Jens Greve, Liudmyla Zabrodska, Maria L. Oliva Alonso, Rosangela P. Tórtora, Alfeu T. França, Marcia G. Ribeiro, Lisa Fu, Amin Kanani, Gina Lacuesta, Susan Waserman, Stephen Betschel, Melissa I. Espinosa, Francisco A. Contreras, Martin Hrubisko, Ludmila Vavrova, Peter Banovcin, Maryam Ayazi, Mohammad Reza Fazlollahi, Shiva Saghafi, Sajedeh Mohammadian, Susan Nabilou Deshiry, Kiana Bidad, Raheleh Shokouhi Shoormasti, Iraj Mohammadzadeh, Mohammad Hassan Bemanian, Seyed Alireza Mahdaviani, Zahra Pourpak, Anna Valerieva, Mariela Vasileva, Tsvetelina Velikova, Elena Petkova, Vasil Dimitrov, Ruggero Di Maulo, on behalf of participating centers, Raz Somech, Hava Golander, Erika J. Sifuentes, Catherine Mansard, Anne Gompel, Bernard Floccard, Claire Blanchard-Delaunay, David Launay, Olivier Fain, Alain Sobel, Stéphane Gayet, Stéphanie Amarger, Guillaume Armengol, Yann Ollivier, Ariane Zélinsky-Gurung, Pierre-Yves Jeandel, Gisèle Kanny, Brigitte Coppéré, Marie Dubrel, Fabien Pelletier, Aurélie Du Thanh, Sébastien Trouiller, Jérôme Laurent, Claire De Moreuil, Christine Audouin Pajot, Alexandre Belot, Ana Rodríguez, Dasha Roa, Alicia Prieto, Maria Luisa Baeza, Borislava Krusheva, Stephanie K. A. Almeida, Rosemeire N. Constantino-Silva, Nyla Melo, Joanna Araujo Simoes, Sandra Mitie U. Palma, Jane da Silva, Bruna F. de Azevedo, Eli Mansour, Teresa González-Quevedo, Carmen Marcos, Teófilo Lobera, Blanca Sáenz de San Pedro, Ernie Avilla, Jacquie Badiou, Karen Binkley, Rozita Borici-Mazi, Linda Howlett, Paul K. Keith, Anne Rowe, Peter Waite, Aurore Billebeau, Isabelle Boccon-Gibbod, Kristina Lis, Yael Laitman, Eitan Friedman, N. M. Gokmen, O. Gulbahar, H. Onay, Z. P. Koc, and A. Z. Sin

Subjects
Immunologic diseases. Allergy, RC581-607
Published
2017
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48. Correction to: The International/Canadian Hereditary Angioedema Guideline

Author

Stephen Betschel, Jacquie Badiou, Karen Binkley, Rozita Borici-Mazi, Jacques Hébert, Amin Kanani, Paul Keith, Gina Lacuesta, Susan Waserman, Bill Yang, Emel Aygören-Pürsün, Jonathan Bernstein, Konrad Bork, Teresa Caballero, Marco Cicardi, Timothy Craig, Henriette Farkas, Anete Grumach, Connie Katelaris, Hilary Longhurst, Marc Riedl, Bruce Zuraw, Magdelena Berger, Jean-Nicolas Boursiquot, Henrik Boysen, Anthony Castaldo, Hugo Chapdelaine, Lori Connors, Lisa Fu, Dawn Goodyear, Alison Haynes, Palinder Kamra, Harold Kim, Kelly Lang-Robertson, Eric Leith, Christine McCusker, Bill Moote, Andrew O’Keefe, Ibraheem Othman, Man-Chiu Poon, Bruce Ritchie, Charles St-Pierre, Donald Stark, and Ellie Tsai

Subjects
Immunologic diseases. Allergy, RC581-607
Abstract

An amendment to this paper has been published and can be accessed via the original article.

Published
2020
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49. Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review

Author

Camila Lopes Veronez, Régis Albuquerque Campos, Rosemeire Navickas Constantino-Silva, Priscila Nicolicht, João Bosco Pesquero, and Anete Sevciovic Grumach

Subjects
hereditary angioedema, acute pancreatitis, abdominal swelling, C1-inhibitor deficiency, F12 mutation, Medicine (General), R5-920
Abstract

Abdominal pain due to intestinal swellings is one of the most common manifestations in hereditary angioedema (HAE). Bowel swellings can cause severe abdominal pain, nausea, vomiting, and diarrhea, which may lead to misdiagnosis of gastrointestinal disorders. In rare cases, HAE abdominal attacks can be accompanied by acute pancreatitis. Here, we report 3 patients with HAE and acute pancreatitis and present a literature review of similar cases. Patients with confirmed diagnosis of HAE secondary to C1-inhibitor (C1-INH) deficiency (n = 2) and HAE with normal C1-INH and F12 mutation (F12-HAE) (n = 1) were included. Pancreatitis was diagnosed based on clinical symptoms and high lipase and amylase levels. Three HAE patients were diagnosed with acute pancreatitis based on increased amylase levels during severe abdominal swelling episodes. Two were previously diagnosed with HAE type I and one with F12-HAE. Pancreatitis was efficiently treated in two patients using Icatibant, with pain relief within hours. When conservatively treated, pancreatitis pain took longer time to resolve. Eighteen pancreatitis cases in HAE with C1-INH deficiency were previously reported and none in F12-HAE. Most patients (12/18) underwent invasive procedures and/or diagnostic methods. Although rare, severe abdominal HAE attacks could cause pancreatitis; HAE-specific treatments may be efficient for HAE-associated pancreatitis. HAE should be considered as a differential diagnosis of acute idiopathic pancreatitis. To our knowledge, this is the first report of HAE-associated pancreatitis in a F12-HAE patient treated with Icatibant.

Published
2019
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50. Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema

Author

Camila Lopes Veronez, Anne Aabom, Renan Paulo Martin, Rafael Filippelli-Silva, Rozana Fátima Gonçalves, Priscila Nicolicht, Agatha Ribeiro Mendes, Jane Da Silva, Mar Guilarte, Anete Sevciovic Grumach, Eli Mansour, Anette Bygum, and João Bosco Pesquero

Subjects
hereditary angioedema, Kallikrein-Kinin System, genetic variation, genotype-phenotype correlation, C1 inhibitor deficiency, F12 mutation, Medicine (General), R5-920
Abstract

Hereditary angioedema (HAE) is an autosomal dominant disease caused by C1-INH deficiency due to mutations in SERPING1 (C1-INH-HAE) in most of the cases, or by specific mutations in factor XII gene, F12 (F12-HAE). Identification of polymorphisms in the genes encoding proteins from key pathways driving HAE can help to understand how genetic diversity contributes to its phenotypic variability. Here, 15 genes related to the Kallikrein-Kinin System (KKS) were analyzed by next generation sequencing in 59 patients with C1-INH-HAE or F12-HAE from Brazil, Denmark and Spain, and 19 healthy relatives in a total of 31 families. We identified 211 variants, from which 23 occurred only in Danish subjects and 79 were found only in Brazilian individuals, resulting in 109/211 variations in common between European and Brazilian population in the HAE families analyzed. BDKRB2 and CPM presented a large number of variants in untranslated regions, 46/49 and 19/24, respectively; whereas ACE (n = 26), SERPING1 (n = 26), CPM (n = 24), and NOS3 (n = 16) genes presented the higher number of variants directly affecting amino acid sequence. Despite the large amount of variants identified, the lack of association between genotype and phenotype indicates that the modulation of HAE symptom requires a more complex regulation, probably involving pathways beyond the KKS, epigenetics and environmental factors. Considering the new HAE types recently described, molecules involved in the regulation of vasculature and in plasminogen activation become promising targets for future genetic studies.

Published
2019
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