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3. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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4. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency

Author

Rosain, Jérémie, Kiykim, Ayca, Michev, Alexandre, Kendir-Demirkol, Yasemin, Rinchai, Darawan, Peel, Jessica N., Li, Hailun, Ocak, Suheyla, Ozdemir, Pinar Gokmirza, Le Voyer, Tom, Philippot, Quentin, Khan, Taushif, Neehus, Anna-Lena, Migaud, Mélanie, Soudée, Camille, Boisson-Dupuis, Stéphanie, Marr, Nico, Borghesi, Alessandro, Casanova, Jean-Laurent, and Bustamante, Jacinta

Published
2024
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5. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort

Author

Gulec Koksal, Zeynep, Bilgic Eltan, Sevgi, Topyildiz, Ezgi, Sezer, Ahmet, Keles, Sevgi, Celebi Celik, Figen, Ozhan Kont, Aylin, Gemici Karaaslan, Betul, Sefer, Asena Pinar, Karali, Zuhal, Arik, Elif, Ozek Yucel, Esra, Akcal, Omer, Karakurt, Leman Tuba, Yorgun Altunbas, Melek, Yalcin, Koray, Uygun, Vedat, Ozek, Gulcihan, Babayeva, Royala, Aydogmus, Cigdem, Ozcan, Dilek, Cavkaytar, Ozlem, Keskin, Ozlem, Kilic, Sara Sebnem, Kiykim, Ayca, Arikoglu, Tugba, Genel, Ferah, Gulez, Nesrin, Guner, Sukru Nail, Karaca, Neslihan Edeer, Reisli, Ismail, Kutukculer, Necil, Altintas, Derya Ufuk, Ozen, Ahmet, Karakoc Aydiner, Elif, and Baris, Safa

Published
2024
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8. Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

Author

Bilgic Eltan, Sevgi, Nain, Ercan, Catak, Mehmet Cihangir, Ezen, Ege, Sefer, Asena Pınar, Karimi, Nastaran, Kiykim, Ayca, Kolukisa, Burcu, Baser, Dilek, Bulutoglu, Alper, Kasap, Nurhan, Yorgun Altunbas, Melek, Yalcin Gungoren, Ezgi, Kendir Demirkol, Yasemin, Kutlug, Seyhan, Hancioglu, Gonca, Dilek, Fatih, Yildiran, Alisan, Ozen, Ahmet, Karakoc-Aydiner, Elif, Erman, Batu, and Baris, Safa

Published
2024
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9. Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Author

Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Eltan, Sevgi Bilgic, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Demirkol, Yasemin Kendir, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Heredia, Raul Jimenez, Kasap, Nurhan, Kiykim, Ayca, Yucel, Esra Ozek, Gok, Veysel, Unal, Ekrem, Kisaarslan, Aysenur Pac, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C, Ozen, Ahmet, Chatila, Talal A, and Baris, Safa

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Digestive Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Humans, Inflammatory Bowel Diseases, Microfilament Proteins, Mutation, Phenotype, Primary Immunodeficiency Diseases, CARMIL2, CD28 co-signaling, combined immune deficiency, inflammatory bowel disease, long-term follow-up, Allergy
Abstract

BackgroundBiallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.MethodsThe presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular helper (cTFH ) cells were analyzed. Three-dimensional (3D) migration assay was performed to determine T-cell shape.ResultsMean age at disease onset was 38 ± 23 months. Main clinical features were skin manifestations (n = 14, 93%), failure to thrive (n = 10, 67%), recurrent infections (n = 10, 67%), allergic symptoms (n = 8, 53%), chronic diarrhea (n = 4, 27%), and EBV-related leiomyoma (n = 2, 13%). Skin manifestations ranged from atopic and seborrheic dermatitis to psoriasiform rash. Patients had reduced proportions of memory CD4+ T cells, Treg, and cTFH cells. Memory B and NK cells were also decreased. CARMIL2-deficient T cells exhibited reduced T-cell proliferation and cytokine production following CD28 co-stimulation and normal morphology when migrating in a high-density 3D collagen gel matrix. IBD was the most severe clinical manifestation, leading to growth retardation, requiring multiple interventional treatments. All patients were alive with a median follow-up of 10.8 years (range: 3-17 years).ConclusionThis cohort provides clinical and immunological features and long-term follow-up of different manifestations of CARMIL2 deficiency.

Published
2022

10. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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11. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author

Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, and Speckmann, Carsten

Published
2024
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12. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency

Author

Taghizade, Nigar, Babayeva, Royala, Kara, Altan, Karakus, Ibrahim Serhat, Catak, Mehmet Cihangir, Bulutoglu, Alper, Haskologlu, Zehra Sule, Akay Haci, Idil, Tunakan Dalgic, Ceyda, Karabiber, Esra, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Sefer, Asena Pinar, Sezer, Ahmet, Kokcu Karadag, Sefika Ilknur, Arik, Elif, Karali, Zuhal, Ozhan Kont, Aylin, Tuzer, Can, Karaman, Sait, Mersin, Selver Seda, Kasap, Nurhan, Celik, Enes, Kocacik Uygun, Dilara Fatma, Aydemir, Sezin, Kiykim, Ayca, Aydogmus, Cigdem, Ozek Yucel, Esra, Celmeli, Fatih, Karatay, Emrah, Bozkurtlar, Emine, Demir, Semra, Metin, Ayse, Karaca, Neslihan Edeer, Kutukculer, Necil, Aksu, Guzide, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Kendir Demirkol, Yasemin, Arikoglu, Tugba, Gulez, Nesrin, Genel, Ferah, Kilic, Sara Sebnem, Aytekin, Caner, Keskin, Ozlem, Yildiran, Alisan, Ozcan, Dilek, Altintas, Derya Ufuk, Ardeniz, Fatma Omur, Dogu, Esin Figen, Ikinciogullari, Kamile Aydan, Karakoc-Aydiner, Elif, Ozen, Ahmet, and Baris, Safa

Published
2023
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13. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Author

Yakici, Nalan, Kreins, Alexandra Y., Catak, Mehmet Cihangir, Babayeva, Royala, Erman, Baran, Kenney, Heather, Gungor, Hatice Eke, Cea, Pablo A., Kawai, Tomoki, Bosticardo, Marita, Delmonte, Ottavia Maria, Adams, Stuart, Fan, Yu-Tong, Pala, Francesca, Turkyilmaz, Ayberk, Howley, Evey, Worth, Austen, Kot, Hakan, Sefer, Asena Pinar, Kara, Altan, Bulutoglu, Alper, Bilgic-Eltan, Sevgi, Altunbas, Melek Yorgun, Bayram Catak, Feyza, Karakus, Ibrahim Serhat, Karatay, Emrah, Tekeoglu, Sidem Didar, Eser, Metin, Albayrak, Davut, Citli, Senol, Kiykim, Ayca, Karakoc-Aydiner, Elif, Ozen, Ahmet, Ghosh, Sujal, Gohlke, Holger, Orhan, Fazil, Notarangelo, Luigi D., Davies, E. Graham, and Baris, Safa

Published
2023
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14. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan

Published
2023
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17. ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients

Author

Eken, Ahmet, Cansever, Murat, Okus, Fatma Zehra, Erdem, Serife, Nain, Ercan, Azizoglu, Zehra Busra, Haliloglu, Yesim, Karakukcu, Musa, Ozcan, Alper, Devecioglu, Omer, Aksu, Guzide, Ayyildiz, Zeynep Arikan, Topal, Erdem, Aydiner, Elif Karakoc, Kiykim, Ayca, Metin, Ayse, Cipe, Funda, Kaya, Aysenur, Artac, Hasibe, Reisli, Ismail, Guner, Sukru N, Uygun, Vedat, Karasu, Gulsun, Altuntas, Hamiyet Dönmez, Canatan, Halit, Oukka, Mohamed, Ozen, Ahmet, Chatila, Talal A, Keles, Sevgi, Baris, Safa, Unal, Ekrem, and Patiroglu, Turkan

Subjects
Prevention, Vaccine Related, Biodefense, Emerging Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Cytokines, Guanine Nucleotide Exchange Factors, Humans, Immunity, Innate, Job Syndrome, Lymphocytes, Mutation, DOCK8, Hyper-IgE syndrome, ILC, ILC3, STAT3, Hyper&#8208, IgE syndrome
Abstract

BackgroundDedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8-deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans.MethodsPeripheral blood ILC1-3 subsets of 16 DOCK8-deficient patients recruited at the pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, were compared with those of healthy controls or post-transplant DOCK8-deficient patients (n = 12) by flow cytometry and real-time qPCR. Sorted total ILCs from DOCK8- or STAT3-mutant patients and healthy controls were assayed for survival, apoptosis, proliferation, and activation by IL-7, IL-23, and IL-12 by cell culture, flow cytometry, and phospho-flow assays.ResultsDOCK8-deficient but not STAT3-mutant patients exhibited a profound depletion of ILC3s, and to a lesser extent ILC2s, in their peripheral blood. DOCK8-deficient ILC1-3 subsets had defective proliferation, expressed lower levels of IL-7R, responded less to IL-7, IL-12, or IL-23 cytokines, and were more prone to apoptosis compared with those of healthy controls.ConclusionDOCK8 regulates human ILC3 expansion and survival, and more globally ILC cytokine signaling and proliferation. DOCK8 deficiency leads to loss of ILC3 from peripheral blood. ILC3 deficiency may contribute to the susceptibility of DOCK8-deficient patients to infections.

Published
2020

19. Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

Author

Meric, Zeynep, primary, Gemici Karaaslan, Betul, additional, Yalcin Gungoren, Ezgi, additional, Bektas Hortoglu, Melika, additional, Cavas, Tolga, additional, Aydemir, Sezin, additional, Bilgic Eltan, Sevgi, additional, Firtina, Sinem, additional, Kendir Demirkol, Yasemin, additional, Eser, Metin, additional, Cekic, Sukru, additional, Kilic, Suar, additional, Karasu, Gulsun, additional, Yesilipek, Mehmet Akif, additional, Eke Gungor, Hatice, additional, Karakoc‐Aydiner, Elif, additional, Ozen, Ahmet, additional, Baris, Safa, additional, Yucel, Esra, additional, Cokugras, Haluk, additional, and Kiykim, Ayca, additional

Published
2024
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21. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, and Walter, Jolan E

Subjects
Autoimmune Disease, Genetics, Hematology, Inflammatory and immune system, Adolescent, Adult, Autoimmunity, Child, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Immunologic Deficiency Syndromes, Immunosuppressive Agents, Infant, Inflammation, Male, Middle Aged, Treatment Outcome, Young Adult, Recombination activating gene, Severe combined immunodeficiency, Immune dysregulation, Autoimmune cytopenias, Hematopoietic stem cell transplantation
Abstract

BACKGROUND:Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE:Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS:In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS:Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS:Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

22. Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

Author

Sefer, Asena Pinar, Abolhassani, Hassan, Ober, Franziska, Kayaoglu, Basak, Bilgic Eltan, Sevgi, Kara, Altan, Erman, Baran, Surucu Yilmaz, Naz, Aydogmus, Cigdem, Aydemir, Sezin, Charbonnier, Louis-Marie, Kolukisa, Burcu, Azizi, Gholamreza, Delavari, Samaneh, Momen, Tooba, Aliyeva, Simuzar, Kendir Demirkol, Yasemin, Tekin, Saban, Kiykim, Ayca, Baser, Omer Faruk, Cokugras, Haluk, Gursel, Mayda, Karakoc-Aydiner, Elif, Ozen, Ahmet, Krappmann, Daniel, Chatila, Talal A., Rezaei, Nima, and Baris, Safa

Published
2022
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23. Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

Author

Surucu Yilmaz, Naz, Bilgic Eltan, Sevgi, Kayaoglu, Basak, Geckin, Busranur, Heredia, Raul Jimenez, Sefer, Asena Pinar, Kiykim, Ayca, Nain, Ercan, Kasap, Nurhan, Dogru, Omer, Yucelten, Ayse Deniz, Cinel, Leyla, Karasu, Gulsun, Yesilipek, Akif, Sozeri, Betul, Kaya, Goksu Gokberk, Yilmaz, Ismail Cem, Baydemir, Ilayda, Aydin, Yagmur, Cansen Kahraman, Deniz, Haimel, Matthias, Boztug, Kaan, Karakoc-Aydiner, Elif, Gursel, Ihsan, Ozen, Ahmet, Baris, Safa, and Gursel, Mayda

Published
2022
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24. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Author

Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, Belaid, Brahim, Al Dhaheri, Fatima, Haskologlu, Sule, Dogu, Figen, Ben-Mustapha, Imen, Sobh, Ali, Galal, Nermeen, Meshaal, Safa, Elhawary, Rabab, El-marsafy, Aisha, Alroqi, Fayhan J., Al-Saud, Bandar, Al-Ahmad, Mona, Al Farsi, Tariq, AL Sukaiti, Nashat, Al-Tamemi, Salem, Mehawej, Cybel, Dbaibo, Ghassan, ElGhazali, Gehad, Kilic, Sara Sebnem, Genel, Ferah, Kiykim, Ayca, Musabak, Ugur, Artac, Hasibe, Guner, Sukru Nail, Boukari, Rachida, Djidjik, Reda, Kechout, Nadia, Cagdas, Deniz, El-Sayed, Zeinab Awad, Karakoc-Aydiner, Elif, Alzyoud, Raed, Barbouche, Mohamed Ridha, Adeli, Mehdi, Wakim, Rima Hanna, Reda, Shereen M., Ikinciogullari, Aydan, Ozen, Ahmet, Bousfiha, Aziz, Al-Mousa, Hamoud, Rezaei, Nima, Al-Herz, Waleed, and Geha, Raif S.

Published
2022
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25. Primary antibody deficiencies in Turkey: molecular and clinical aspects

Author

Firtina, Sinem, Ng, Yuk Yin, Ng, Ozden H., Kiykim, Ayca, Ozek, Esra Yucel, Kara, Manolya, Aydiner, Elif, Nepesov, Serdar, Camcioglu, Yildiz, Sayar, Esra H., Gungoren, Ezgi Yalcin, Reisli, Ismail, Torun, Selda H., Haskologlu, Sule, Cogurlu, Tuba, Kaya, Aysenur, Cekic, Sukru, Baris, Safa, Ozbek, Ugur, Ozen, Ahmet, and Sayitoglu, Muge

Published
2022
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26. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

27. Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: A Multicenter Analysis

Author

Bozkurt, Hayrunnisa Bekis, primary, Catak, Feyza Bayram, additional, Sahin, Ali, additional, Gungoren, Ezgi Yalcin, additional, Karaarslan, Betul Gemici, additional, Yakici, Nalan, additional, Altunbas, Melek Yorgun, additional, Catak, Mehmet Cihangir, additional, Can, Salim, additional, Amirov, Razin, additional, Bozkurt, Selcen, additional, Ozturk, Necmiye, additional, Eltan, Sevgi Bilgic, additional, Kasap, Nurhan, additional, Cetinkaya, Fatma Bal, additional, Orhan, Fazil, additional, Arga, Mustafa, additional, Cavkaytar, Ozlem, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, and Baris, Safa, additional

Published
2024
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28. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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30. Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.

Author

Bekis Bozkurt, Hayrunnisa, Bayram Catak, Feyza, Sahin, Ali, Yalcin Gungoren, Ezgi, Gemici Karaarslan, Betul, Yakici, Nalan, Yorgun Altunbas, Melek, Catak, Mehmet Cihangir, Can, Salim, Amirov, Razin, Bozkurt, Selcen, Ozturk, Necmiye, Bilgic Eltan, Sevgi, Kasap, Nurhan, Bal Cetinkaya, Fatma, Orhan, Fazil, Arga, Mustafa, Cavkaytar, Ozlem, Kiykim, Ayca, and Karakoc-Aydiner, Elif

Subjects
HEMATOPOIETIC stem cell transplantation, LYMPHOCYTE subsets, REGULATORY T cells, SYMPTOMS, DIAGNOSIS
Abstract

Purpose: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis and management of IPEX. We sought to present clinical, genetic, and immunological assessments of 12 IPEX patients with long-term follow-up to facilitate the diagnosis and management of the disease. Methods: Clinical findings and treatment options of the patients were collected over time. Lymphocyte subpopulations, protein expressions, regulatory T (Treg) and circulating T follicular helper (cTFH) cells, and T-cell proliferation were analyzed. Results: Predominant presentations included autoimmunity (91.6%), failure to thrive (66.7%), and eczema (58.3%). There were four classical and eight atypical IPEX individuals. Allergic manifestations were more common in atypical patients. Notably, chronic diarrhea demonstrated heightened severity compared to other manifestations. Four patients (33.3%) demonstrated eosinophilia, and nine (75%) showed high serum IgE levels. Most patients exhibited normal percentages of Treg cells with reduced CD25, FOXP3, and CTLA-4 expressions, corrected after hematopoietic stem cell transplantation (HSCT). Compared to healthy controls, the TH2-like skewing accompanied by reduced TH17-like responses was observed in cTFH and Treg cells of patients. Overall, nine patients (75%) received immunosuppressants (ISs), and six (50%) underwent HSCT, which was the only treatment revealing sustained control. Sirolimus was used in six patients and showed better control than other ISs. Conclusions: The first cohort from Turkey with long-term follow-up results, comparing typical and atypical cases, provides insights into the outcomes of different therapeutic modalities and T- cell subtype changes in IPEX syndrome. [ABSTRACT FROM AUTHOR]

Published
2025
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33. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author

PMC Medisch specialisten, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, Speckmann, Carsten, PMC Medisch specialisten, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, and Speckmann, Carsten

Published
2024

34. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children

Author

Benamar, Mehdi, Chen, Qian, Chou, Janet, Jule, Amelie M., Boudra, Rafik, Contini, Paola, Crestani, Elena, Lai, Peggy S., Wang, Muyun, Fong, Jason, Rockwitz, Shira, Lee, Pui, Chan, Tsz Man Fion, Altun, Ekin Zeynep, Kepenekli, Eda, Karakoc-Aydiner, Elif, Ozen, Ahmet, Boran, Perran, Aygun, Fatih, Onal, Pinar, Sakalli, Ayse Ayzit Kilinc, Cokugras, Haluk, Gelmez, Metin Yusuf, Oktelik, Fatma Betul, Cetin, Esin Aktas, Zhong, Yuelin, Taylor, Maria Lucia, Irby, Katherine, Halasa, Natasha B., Mack, Elizabeth H., Signa, Sara, Prigione, Ignazia, Gattorno, Marco, Cotugno, Nicola, Amodio, Donato, Geha, Raif S., Son, Mary Beth, Newburger, Jane, Agrawal, Pankaj B., Volpi, Stefano, Palma, Paolo, Kiykim, Ayca, Randolph, Adrienne G., Deniz, Gunnur, Baris, Safa, De Palma, Raffaele, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Henderson, Lauren A., and Chatila, Talal A.

Subjects
Suppressor cells -- Health aspects -- Physiological aspects, Cellular signal transduction -- Research, Pediatric research, Health care industry
Abstract

Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas acute-COVID-19 severity and outcomes were previously correlated with Notch4 expression on Tregs, here, we show that Tregs in MIS-C were destabilized through a Notch1-dependent mechanism. Genetic analysis revealed that patients with MIS-C had enrichment of rare deleterious variants affecting inflammation and autoimmunity pathways, including dominant-negative mutations in the Notch1 regulators NUMB and NUMBL leading to Notch1 upregulation. Notch1 signaling in Tregs induced CD22, leading to their destabilization in a mTORC1dependent manner and to the promotion of systemic inflammation. These results identify a Notch1/CD22 signaling axis that disrupts Treg function in MIS-C and point to distinct immune checkpoints controlled by individual Treg Notch receptors that shape the inflammatory outcome in SARS-CoV-2 infection., Introduction COVID-19, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has resulted in massive morbidity and mortality worldwide (1, 2). Acute infection is associated in some individuals with [...]

Published
2023
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35. Rapid Drug Desensitization and Management of Breakthrough Reactions in Pediatric Patients.

Author

KARAASLAN, Betul GEMICI, AYDEMIR, Sezin, MERIC, Zeynep, YILMAZ, Esra KARABAG, AMIROV, Ceren BIBINOGLU, DILEK, Tugce Damla, OCAK, Suheyla, SAKALLI, Ayse Ayzit KILINC, SALTIK, Sema, CANPOLAT, Nur, KASAPCOPUR, Ozgur, YUCEL, Esra, COKUGRAS, Haluk, and KIYKIM, Ayca

Subjects
DRUG allergy, MEDICAL protocols, PATIENT safety, ANTINEOPLASTIC agents, ALLERGIES, RETROSPECTIVE studies, ANTIHISTAMINES, MONOCLONAL antibodies, ALLERGY desensitization, DRUG efficacy, MEDICAL records, ACQUISITION of data, METHYLPREDNISOLONE, SKIN tests, CHILDREN
Abstract

Objective: Rapid drug desensitization (RDD) is a safe and effective method of inducing temporary tolerance and gradually increasing the dose over a few hours to a few days, thereby preventing severe hypersensitivity reactions. Despite the limited number of pediatric desensitization studies in the literature, it is important to explore this area further to provide better treatment options for patients. This study will determine the safety and efficacy of desensitization and present management strategies for breakthrough reactions in pediatric patients with immediate hypersensitivity reactions (HSR). Materials and Methods: This retrospective study enrolled 14 pediatric patients with drug HSRs who underwent drug desensitization between January 2020 and January 2024. The desensitization protocols used were developed by Castells and consisted of a 12-step protocol with 3 parenteral preparations with increasing concentrations. The standard protocol included premedication with antihistamine (pheniramine) and methylprednisolone (1 mg/kg) 30 minutes before the infusion. Results: The study involved 14 patients. A total of 64 desensitizations were carried out for 16 different drugs. Only 13% resulted in mild to severe reactions. Overall, almost 92% of all desensitizations were successful. Additionally, it is important to highlight that all breakthrough reactions (BRs) occurred with monoclonal antibodies. Mild BRs during RDD were associated with more severe reactions during the next RDDs. No BRs were seen during RDD in patients with mild initial reactions. Conclusion: It is important to note that desensitization is not an extreme method, and that pediatric age is not a contraindication. Desensitization is a safe and successful method for children, with a positive impact on survival and overall prognosis. [ABSTRACT FROM AUTHOR]

Published
2024
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38. Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort

Author

Baris, Hatice Ezgi, Ogulur, Ismail, Akcam, Bengu, Kiykim, Ayca, Karagoz, Dilek, Saraymen, Berkay, Akgun, Gamze, Eltan, Sevgi Bilgic, Aydemir, Sezin, Akidagi, Zeynep, Bentli, Esma, Nain, Ercan, Kasap, Nurhan, Baser, Dilek, Altintas, Derya Ufuk, Camcioglu, Yildiz, Yesil, Gözde, Ozen, Ahmet, Koker, Mustafa Yavuz, Karakoc-Aydiner, Elif, and Baris, Safa

Published
2020
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40. Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

Author

Bilgic Eltan, Sevgi, primary, Nain, Ercan, additional, Catak, Mehmet Cihangir, additional, Ezen, Ege, additional, Sefer, Asena Pınar, additional, Karimi, Nastaran, additional, Kiykim, Ayca, additional, Kolukisa, Burcu, additional, Baser, Dilek, additional, Bulutoglu, Alper, additional, Kasap, Nurhan, additional, Yorgun Altunbas, Melek, additional, Yalcin Gungoren, Ezgi, additional, Kendir Demirkol, Yasemin, additional, Kutlug, Seyhan, additional, Hancioglu, Gonca, additional, Dilek, Fatih, additional, Yildiran, Alisan, additional, Ozen, Ahmet, additional, Karakoc-Aydiner, Elif, additional, Erman, Batu, additional, and Baris, Safa, additional

Published
2023
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41. Successful rapid desensitization of a pediatric multiple sclerosis patient with anaphylaxis to ocrelizumab

Author

Karaaslan, Hatice G., Aydemir, Sezin, Amirov, Ceren, Dilek, Tugce, Bayramli, Zerengiz, Saltik, Sema, Kiykim, Ayca, and Cokugras, Haluk

Subjects
Drug allergy -- Case studies -- Care and treatment, Multiple sclerosis -- Case studies -- Drug therapy, Allergy desensitization -- Case studies, Pediatric research, Health
Abstract

Byline: Hatice. G. Karaaslan, Sezin. Aydemir, Ceren. Amirov, Tugce. Dilek, Zerengiz. Bayramli, Sema. Saltik, Ayca. Kiykim, Haluk. Cokugras Dear Editor, Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of [...]

Published
2022

43. Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency

Author

Kiykim, Ayca, Ogulur, Ismail, Dursun, Esra, Charbonnier, Louis Marie, Nain, Ercan, Cekic, Sukru, Dogruel, Dilek, Karaca, Neslihan Edeer, Cogurlu, Mujde Tuba, Bilir, Ozlem Arman, Cansever, Murat, Kapakli, Hasan, Baser, Dilek, Kasap, Nurhan, Kutlug, Seyhan, Altintas, Derya Ufuk, Al-Shaibi, Ahmad, Agrebi, Nourhen, Kara, Manolya, Guven, Ayla, Somer, Ayper, Aydogmus, Cigdem, Ayaz, Nuray Aktay, Metin, Ayse, Aydogan, Metin, Uncuoglu, Aysen, Patiroglu, Turkan, Yildiran, Alisan, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Aksu, Guzide, Kutukculer, Necil, Kilic, Sara S., Yilmaz, Mustafa, Karakoc-Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Chatila, Talal A., and Baris, Safa

Published
2019
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44. Perioperative hypersensitivity in children: A prospective multidisciplinary study.

Author

Aydemir, Sezin, Gemici Karaaslan, Hatice Betul, Mustu, Ulviye, Tin, Oguzhan, Hakalmaz, Ali Ekber, Ozcan, Rahsan, Emre, Senol, Kendigelen, Pinar, Tutuncu, Ayse Cigdem, Kiykim, Ayca, and Cokugras, Haluk

Subjects
ALLERGIES, SKIN tests, PEDIATRIC surgeons, LONGITUDINAL method, PEDIATRIC surgery, ANAPHYLAXIS, URTICARIA
Abstract

Background: There are few studies of perioperative hypersensitivity reactions in children. The diagnosis of perioperative hypersensitivity reactions may be under estimated because it is difficult to recognize the reactions. Anaphylaxis may go unnoticed because of patient unconsciousness. Urticaria may be missed due to sterile drapes. The aim of this study was to prospectively evaluate perioperative hypersensitivity reactions. Methods: In this prospective study, patients with suspected perioperative hypersensitivity reactions aged 0–18 years who underwent surgery at the Department of Pediatric Surgery, Cerrahpasa Faculty of Medicine, between 2019 and 2021 were investigated. Suspected reactions in the perioperative period were graded according to the Ring and Messmer scale. Patients with suspected reactions were examined 4–6 weeks after the reaction. If necessary, specific IgE and basophil activation tests were performed. Reactions of grades III–IV were considered anaphylaxis. If one test modality was strongly positive and there was a relevant time point or repeated allergic reactions, or at least two test modalities were positive, hypersensitivity was confirmed. In all patients, serum tryptase levels were analyzed at the time of the reaction, 2 h after the reaction, and 4–6 weeks after the reaction as part of the allergic evaluation. Results: A total of 29 patients (8 female, 21 male) suspected of having an intraoperative reaction during the study were included in the analysis. Perioperative hypersensitivity reactions were noted in 1 patient. The incidence of perioperative hypersensitivity reactions was reported to be 0.03% (n = 1/2861). While anaphylaxis was confirmed in 1 patient, 5 patients were considered possible anaphylaxis cases. Conclusion: Perioperative hypersensitivity reactions can be life‐threatening and may recur with further administration. Collaboration between pediatric surgeons, anesthesiologists, and allergists can prevent further reactions. All suspected cases should be evaluated by an experienced allergist soon after the initial reaction. [ABSTRACT FROM AUTHOR]

Published
2024
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46. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author

Fischer, Marco, primary, Olbrich, Peter, additional, Hadjadj, Jérôme, additional, Aumann, Volker, additional, Bakhtiar, Shahrzad, additional, Barlogis, Vincent, additional, von Bismarck, Philipp, additional, Bloomfield, Markéta, additional, Booth, Claire, additional, Buddingh, Emmeline P., additional, Cagdas, Deniz, additional, Castelle, Martin, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Chetty, Kritika, additional, Cougoul, Pierre, additional, Crickx, Etienne, additional, Dara, Jasmeen, additional, Deyà-Martínez, Angela, additional, Farmand, Susan, additional, Formankova, Renata, additional, Gennery, Andrew R., additional, Gonzalez-Granado, Luis Ignacio, additional, Hagin, David, additional, Hanitsch, Leif Gunnar, additional, Hanzlikovà, Jana, additional, Hauck, Fabian, additional, Ivorra-Cortés, José, additional, Kisand, Kai, additional, Kiykim, Ayca, additional, Körholz, Julia, additional, Leahy, Timothy Ronan, additional, van Montfrans, Joris, additional, Nademi, Zohreh, additional, Nelken, Brigitte, additional, Parikh, Suhag, additional, Plado, Silvi, additional, Ramakers, Jan, additional, Redlich, Antje, additional, Rieux-Laucat, Frédéric, additional, Rivière, Jacques G., additional, Rodina, Yulia, additional, Júnior, Pérsio Roxo, additional, Salou, Sarah, additional, Schuetz, Catharina, additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Touzot, Fabien, additional, Unal, Ekrem, additional, Lankester, Arjan C., additional, Burns, Siobhan, additional, Seppänen, Mikko R.J., additional, Neth, Olaf, additional, Albert, Michael H., additional, Ehl, Stephan, additional, Neven, Bénédicte, additional, and Speckmann, Carsten, additional

Published
2023
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47. Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757]

Author

Yakici, Nalan, primary, Kreins, Alexandra Y., additional, Catak, Mehmet Cihangir, additional, Babayeva, Royala, additional, Erman, Baran, additional, Kenney, Heather, additional, Eke-Gungor, Hatice, additional, Cea, Pablo A., additional, Kawai, Tomoki, additional, Bosticardo, Marita, additional, Delmonte, Ottavia Maria, additional, Adams, Stuart, additional, Fan, Yu-Tong, additional, Pala, Francesca, additional, Turkyilmaz, Ayberk, additional, Howley, Evey, additional, Worth, Austen, additional, Kot, Hakan, additional, Sefer, Asena Pinar, additional, Kara, Altan, additional, Bulutoglu, Alper, additional, Bilgic-Eltan, Sevgi, additional, Yorgun Altunbas, Melek, additional, Bayram Catak, Feyza, additional, Karakus, Ibrahim Serhat, additional, Karatay, Emrah, additional, Tekeoglu, Sidem Didar, additional, Eser, Metin, additional, Albayrak, Davut, additional, Citli, Senol, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, Ghosh, Sujal, additional, Gohlke, Holger, additional, Orhan, Fazil, additional, Notarangelo, Luigi D., additional, Davies, E. Graham, additional, and Baris, Safa, additional

Published
2023
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48. Polymerase [delta] deficiency causes syndromic immunodeficiency with replicative stress

Author

Conde, Cecilia Dominguez, Petronczki, Ozlem Yuce, Baris, Safa, Willmann, Katharina L., Girardi, Enrico, Salzer, Elisabeth, Weitzer, Stefan, Ardy, Rico Chandra, Krolo, Ana, Ijspeert, Hanna, Kiykim, Ayca, Karakoc-Aydiner, Elif, Forster- Waldl, Elisabeth, Kager, Leo, Pickl, Winfried F., Superti-Furga, Giulio, Martinez, Javier, Loizou, Joanna I., Ozen, Ahmet, van der Burg, Mirjam, and Boztug, Kaan

Subjects
Thermo Fisher Scientific Inc., B cells -- Analysis, DNA replication -- Analysis, Immunodeficiency -- Development and progression -- Analysis, Genomes -- Analysis, Genomics -- Analysis, Scientific equipment industry -- Analysis, DNA, Etiology (Medicine), Health care industry
Abstract

Polymerase [delta] is essential for eukaryotic genome duplication and synthesizes DNA at both the leading and lagging strands. The polymerase [delta] complex is a heterotetramer comprising the catalytic subunit POLD1 and the accessory subunits POLD2, POLD3, and POLD4. Beyond DNA replication, the polymerase [delta] complex has emerged as a central element in genome maintenance. The essentiality of polymerase [delta] has constrained the generation of polymerase [delta]-knockout cell lines or model organisms and, therefore, the understanding of the complexity of its activity and the function of its accessory subunits. To our knowledge, no germline biallelic mutations affecting this complex have been reported in humans. In patients from 2 independent pedigrees, we have identified what we believe to be a novel syndrome with reduced functionality of the polymerase [delta] complex caused by germline biallelic mutations in POLD1 or POLD2 as the underlying etiology of a previously unknown autosomal-recessive syndrome that combines replicative stress, neurodevelopmental abnormalities, and immunodeficiency. Patients' cells showed impaired cell-cycle progression and replication-associated DNA lesions that were reversible upon overexpression of polymerase [delta]. The mutations affected the stability and interactions within the polymerase [delta] complex or its intrinsic polymerase activity. We believe our discovery of human polymerase [delta] deficiency identifies the central role of this complex in the prevention of replication-related DNA lesions, with particular relevance to adaptive immunity., Introduction Eukaryotic genome duplication relies on 3 B-family DNA polymerases: polymerase [alpha], polymerase [epsilon], and polymerase [delta] (1). Polymerase [alpha] is known to have primase activity (2), whereas polymerase [epsilon] [...]

Published
2019
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