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1. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity

Author

Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, and Kathleen E. Sullivan

Subjects
inborn errors of immunity, primary immunodeficiency, vaccine-derived rubella viruses, granulomatous inflammation, skin lesion, neutrophils, Immunologic diseases. Allergy, RC581-607
Abstract

Rubella virus (RuV) has recently been found in association with granulomatous inflammation of the skin and several internal organs in patients with inborn errors of immunity (IEI). The cellular tropism and molecular mechanisms of RuV persistence and pathogenesis in select immunocompromised hosts are not clear. We provide clinical, immunological, virological, and histological data on a cohort of 28 patients with a broad spectrum of IEI and RuV-associated granulomas in skin and nine extracutaneous tissues to further delineate this relationship. Combined immunodeficiency was the most frequent diagnosis (67.8%) among patients. Patients with previously undocumented conditions, i.e., humoral immunodeficiencies, a secondary immunodeficiency, and a defect of innate immunity were identified as being susceptible to RuV-associated granulomas. Hematopoietic cell transplantation was the most successful treatment in this case series resulting in granuloma resolution; steroids, and TNF-α and IL-1R inhibitors were moderately effective. In addition to M2 macrophages, neutrophils were identified by immunohistochemical analysis as a novel cell type infected with RuV. Four patterns of RuV-associated granulomatous inflammation were classified based on the structural organization of granulomas and identity and location of cell types harboring RuV antigen. Identification of conditions that increase susceptibility to RuV-associated granulomas combined with structural characterization of the granulomas may lead to a better understanding of the pathogenesis of RuV-associated granulomas and discover new targets for therapeutic interventions.

Published
2021
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2. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Michael H. Albert, Tiarlan Sirait, Dirk-Jan Eikema, Katerina Bakunina, Claudia Wehr, Felipe Suarez, Maria Laura Fox, Nizar Mahlaoui, Andrew R. Gennery, Arjan C. Lankester, Rita Beier, Maria Ester Bernardo, Venetia Bigley, Caroline A. Lindemans, Siobhan O. Burns, Ben Carpenter, Jaroslaw Dybko, Tayfun Güngör, Fabian Hauck, Su Han Lum, Dmitry Balashov, Roland Meisel, Despina Moshous, Ansgar Schulz, Carsten Speckmann, Mary A. Slatter, Brigitte Strahm, Duygu Uckan-Cetinkaya, Isabelle Meyts, Tanja C. Vallée, Robert Wynn, Bénédicte Neven, Emma C. Morris, Alessandro Aiuti, Alexei Maschan, Mahmoud Aljurf, Tobias Gedde-Dahl, Gunhan Gurman, Victoria Bordon, Gergely Kriván, Franco Locatelli, Fulvio Porta, David Valcárcel, Yves Beguin, Maura Faraci, Nicolaus Kröger, Aleksandr Kulagin, Peter J. Shaw, Joan Hendrik Veelken, Cristina Diaz de Heredia, Franca Fagioli, Matthias Felber, Bernd Gruhn, Wolfgang Holter, Claudia Rössig, Petr Sedlacek, Jane Apperley, Mouhab Ayas, Ivana Bodova, Goda Choi, J.J. Cornelissen, Anne Sirvent, Anjum Khan, Alphan Kupesiz, Stig Lenhoff, Hakan Ozdogu, Nicolas von der Weid, Montserrat Rovira, Rik Schots, Donald C. Vinh, Clinical sciences, and Hematology

Subjects
Adult, Adolescent, adolescenti, Trapianto, Immunology, Graft vs Host Disease, Biochemistry, Bronchiectasis/etiology, Humans, Transplantation, Homologous, Hematopoietic Stem Cell Transplantation/adverse effects, Child, Retrospective Studies, cellule staminali ematopoietiche, Hematopoietic Stem Cell Transplantation, Infant, Trapianto, cellule staminali ematopoietiche, adolescenti, Inborn errors of immunity, Cell Biology, Hematology, Middle Aged, Bronchiectasis, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, HSCT, young adult
Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of published HSCT outcome data outside small, single-center studies and perceived high risk of transplant-related mortality have delayed the adoption of HSCT for IEI patients presenting or developing significant organ damage later in life. This large retrospective, multicenter HSCT outcome study reports on 329 IEI patients (age range, 15-62.5 years at HSCT). Patients underwent first HSCT between 2000 and 2019. Primary endpoints were overall survival (OS) and event-free survival (EFS). We also evaluated the influence of IEI-subgroup and IEI-specific risk factors at HSCT, including infections, bronchiectasis, colitis, malignancy, inflammatory lung disease, splenectomy, hepatic dysfunction, and systemic immunosuppression. At a median follow-up of 44.3 months, the estimated OS at 1 and 5 years post-HSCT for all patients was 78% and 71%, and EFS was 65% and 62%, respectively, with low rates of severe acute (8%) or extensive chronic (7%) graft-versus-host disease. On univariate analysis, OS and EFS were inferior in patients with primary antibody deficiency, bronchiectasis, prior splenectomy, hepatic comorbidity, and higher hematopoietic cell transplant comorbidity index scores. On multivariable analysis, EFS was inferior in those with a higher number of IEI-associated complications. Neither age nor donor had a significant effect on OS or EFS. We have identified age-independent risk factors for adverse outcome, providing much needed evidence to identify which patients are most likely to benefit from HSCT. ispartof: BLOOD vol:140 issue:14 pages:1635-1649 ispartof: location:United States status: published

Published
2022

3. Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party

Author

Su Han Lum, Milen Minkov, Simon A. Jones, Sheree Hazelaar, Tiarlan Sirait, Jane E. Potter, Polina Stepensky, Frederic Garban, Herbert Pichler, Jerry Stein, Zuhre Kaya, Ansgar Schulz, Karin Mellgren, Cristina Diaz de Heredia, Cecile Pochon, Susana Riesco, Miguel Angel Diaz, Gérard Michel, Caroline Lindemans, Bernd Gruhn, Michael H. Albert, Arjan C. Lankester, Bénédicte Neven, and Robert Wynn

Subjects
Transplantation, Hematology
Published
2023

5. Supplementary figure 2 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Author

Wojciech Mlynarski, Krystyna Chrzanowska, Hanna Gregorek, Bendik Lund, Jochen Buechner, Johann Greil, Alexandra Kreins, Ewa Wiesik-Szewczyk, Agnieszka Tomaszewska, Sara S. Kilic, Markus G. Seidel, Peter Svec, Mary Eapen, Dmitry Balashov, Michael H. Albert, Sujal Ghosh, Karl-Walter Sykora, Andrew R. Gennery, Eva Hlavackova, Zdenka Krenova, Larysa Kostyuchenko, Elena Deripapa, Natalia Miakova, Alina Fedorova, Jan Styczynski, Jolanta Gozdzik, Sylwia Koltan, Monika Lejman, Katarzyna Drabko, Anna Pieczonka, Marek Ussowicz, Krzysztof Kałwak, Barbara Pietrucha, Barbara Piątosa, Edyta Heropolitanska-Pliszka, Bozena Dembowska-Baginska, Anna Wakulinska, Wojciech Fendler, Agata Pastorczak, and Beata Wolska-Kusnierz

Abstract

Overall survival of patients with Nijmegen breakage syndrome depending on the time when they were treated due to malignancies: before and after 2000 year.

Published
2023

6. Supplementary figure 1 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Author

Wojciech Mlynarski, Krystyna Chrzanowska, Hanna Gregorek, Bendik Lund, Jochen Buechner, Johann Greil, Alexandra Kreins, Ewa Wiesik-Szewczyk, Agnieszka Tomaszewska, Sara S. Kilic, Markus G. Seidel, Peter Svec, Mary Eapen, Dmitry Balashov, Michael H. Albert, Sujal Ghosh, Karl-Walter Sykora, Andrew R. Gennery, Eva Hlavackova, Zdenka Krenova, Larysa Kostyuchenko, Elena Deripapa, Natalia Miakova, Alina Fedorova, Jan Styczynski, Jolanta Gozdzik, Sylwia Koltan, Monika Lejman, Katarzyna Drabko, Anna Pieczonka, Marek Ussowicz, Krzysztof Kałwak, Barbara Pietrucha, Barbara Piątosa, Edyta Heropolitanska-Pliszka, Bozena Dembowska-Baginska, Anna Wakulinska, Wojciech Fendler, Agata Pastorczak, and Beata Wolska-Kusnierz

Abstract

The dynamics of primary cancer incidence among patients with NBS described using the three-stage joint-point model.

Published
2023

7. Supplementary Figure 3 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Author

Wojciech Mlynarski, Krystyna Chrzanowska, Hanna Gregorek, Bendik Lund, Jochen Buechner, Johann Greil, Alexandra Kreins, Ewa Wiesik-Szewczyk, Agnieszka Tomaszewska, Sara S. Kilic, Markus G. Seidel, Peter Svec, Mary Eapen, Dmitry Balashov, Michael H. Albert, Sujal Ghosh, Karl-Walter Sykora, Andrew R. Gennery, Eva Hlavackova, Zdenka Krenova, Larysa Kostyuchenko, Elena Deripapa, Natalia Miakova, Alina Fedorova, Jan Styczynski, Jolanta Gozdzik, Sylwia Koltan, Monika Lejman, Katarzyna Drabko, Anna Pieczonka, Marek Ussowicz, Krzysztof Kałwak, Barbara Pietrucha, Barbara Piątosa, Edyta Heropolitanska-Pliszka, Bozena Dembowska-Baginska, Anna Wakulinska, Wojciech Fendler, Agata Pastorczak, and Beata Wolska-Kusnierz

Abstract

Overall survival of patients with Nijmegen breakage syndrome after cancer diagnosis. Patients who underwent HSCT were marked with an asterix.

Published
2023

8. Supplementary Data legend from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Author

Wojciech Mlynarski, Krystyna Chrzanowska, Hanna Gregorek, Bendik Lund, Jochen Buechner, Johann Greil, Alexandra Kreins, Ewa Wiesik-Szewczyk, Agnieszka Tomaszewska, Sara S. Kilic, Markus G. Seidel, Peter Svec, Mary Eapen, Dmitry Balashov, Michael H. Albert, Sujal Ghosh, Karl-Walter Sykora, Andrew R. Gennery, Eva Hlavackova, Zdenka Krenova, Larysa Kostyuchenko, Elena Deripapa, Natalia Miakova, Alina Fedorova, Jan Styczynski, Jolanta Gozdzik, Sylwia Koltan, Monika Lejman, Katarzyna Drabko, Anna Pieczonka, Marek Ussowicz, Krzysztof Kałwak, Barbara Pietrucha, Barbara Piątosa, Edyta Heropolitanska-Pliszka, Bozena Dembowska-Baginska, Anna Wakulinska, Wojciech Fendler, Agata Pastorczak, and Beata Wolska-Kusnierz

Abstract

Supplementary Data legend

Published
2023

9. Supplementary Table 1 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Author

Wojciech Mlynarski, Krystyna Chrzanowska, Hanna Gregorek, Bendik Lund, Jochen Buechner, Johann Greil, Alexandra Kreins, Ewa Wiesik-Szewczyk, Agnieszka Tomaszewska, Sara S. Kilic, Markus G. Seidel, Peter Svec, Mary Eapen, Dmitry Balashov, Michael H. Albert, Sujal Ghosh, Karl-Walter Sykora, Andrew R. Gennery, Eva Hlavackova, Zdenka Krenova, Larysa Kostyuchenko, Elena Deripapa, Natalia Miakova, Alina Fedorova, Jan Styczynski, Jolanta Gozdzik, Sylwia Koltan, Monika Lejman, Katarzyna Drabko, Anna Pieczonka, Marek Ussowicz, Krzysztof Kałwak, Barbara Pietrucha, Barbara Piątosa, Edyta Heropolitanska-Pliszka, Bozena Dembowska-Baginska, Anna Wakulinska, Wojciech Fendler, Agata Pastorczak, and Beata Wolska-Kusnierz

Abstract

Supplementary Table 1

Published
2023

10. Allogeneic hematopoietic stem cell transplantation for adult HLH: a retrospective study by the chronic malignancies and inborn errors working parties of EBMT

Author

Rafal Machowicz, Felipe Suarez, Wieslaw Wiktor-Jedrzejczak, Diderik-Jan Eikema, Liesbeth C. de Wreede, Henric-Jan Blok, Cecilia Isaksson, Hermann Einsele, Xavier Poiré, Suzanne van Dorp, Emmanouil Nikolousis, Jan-Erik Johansson, Guido Kobbe, Marco Zecca, Renate Arnold, Armin Gerbitz, Jürgen Finke, Jose Luis Díez-Martín, Francesca Bonifazi, Grant McQuaker, Stig Lenhoff, Pierre-Simon Rohrlich, Matthias Theobald, Per Ljungman, Matthew Collin, Michael H. Albert, Gerhard Ehninger, Kristina Carlson, Kazimierz Halaburda, Kai Lehmberg, Stefan Schönland, Ibrahim Yakoub-Agha, Andrew R. Gennery, Arjan C. Lankester, Nicolaus Kröger, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre du cancer, and UCL - (SLuc) Service d'hématologie

Subjects
Adult, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], Transplantation, Transplantation Conditioning, Child, Preschool, Neoplasms, Hematopoietic Stem Cell Transplantation, Graft vs Host Disease, Humans, Hematology, Lymphohistiocytosis, Hemophagocytic, Retrospective Studies
Abstract

Contains fulltext : 251601.pdf (Publisher’s version ) (Closed access) Hemophagocytic lymphohistiocytosis (HLH; hemophagocytic syndrome) is a rare syndrome of potentially fatal, uncontrolled hyperinflammation. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is indicated in primary, recurrent or progressive HLH, but information about its outcomes in the adult population is limited. We obtained data about 87 adult (≥18 years of age) patients retrospectively reported to the EBMT. The median survival time was 13.9 months. The three and five-year overall survival (OS) was 44% (95% CI 33-54%). Among 39 patients with a follow-up longer than 15 months, only three died. Relapse rate was 21% (95% CI 13-30%), while NRM reached 36% (95% CI 25-46%). Younger patients (

Published
2022

11. Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Author

Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H. Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y. Kreins, E. Graham Davies, Dominik T. Schneider, Horst v. Bernuth, Thomas Klingebiel, Georg F. Hoffmann, Ansgar Schulz, and Fabian Hauck

Subjects
Immunology, Immunology and Allergy
Abstract

Backgr ound T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years. Results Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. Of these, 25/26 (96%) were alive at last follow-up. Two patients presented with in utero onset OS and died after birth. Five patients with syndromic disorders underwent thymus transplantation. Eight syndromic patients deceased, all from non-immunological complications. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result. Conclusion The German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe.

Published
2023

12. Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)

Author

Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H. Albert, Sujal Ghosh, Catharina Schütz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann, Tobias Rothoeft, Alexandra Y Kreins, Edward G Davies, Dominik Schneider, Horst von Bernuth, Thomas Klingebiel, Georg Hoffmann, Ansgar Schulz, and Fabian H Hauck

Abstract

Background T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years. Results Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn Syndrome (OS)/idiopathic T-cell lymphocytopenia and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. Of these, 25/26 (96%) were alive at last follow-up. Two patients presented with in-utero onset OS and died shortly after birth. Five patients with syndromic disorders underwent thymus transplantation. Eight syndromic patients deceased, all from non-immunological complications. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result. Conclusion TREC-NBS was successfully incorporated into German NBS and represents the largest prospective European TREC-NBS cohort at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54.000. The overall incidence of severe congenital T-cell lymphocytopenia is 1:21.000. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe.

Published
2022

13. Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1 : Whole lung lavages for long‐term bridging to hematopoietic stem cell transplantation

Author

Dirk Schramm, Carola Schön, Michael H. Albert, Matthias Kappler, Matthias Griese, Simone Reu-Hofer, Elias Seidl, Fabian Hauck, Karl Reiter, and Ingo Pawlita

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, medicine.medical_treatment, Hematopoietic stem cell transplantation, Pulmonary Alveolar Proteinosis, Bronchoalveolar Lavage, Gastroenterology, Hypogammaglobulinemia, Internal medicine, 2',5'-Oligoadenylate Synthetase, medicine, Humans, Lung, Heterozygous mutation, biology, business.industry, Hematopoietic Stem Cell Transplantation, Clinical course, Infant, medicine.disease, medicine.anatomical_structure, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Etiology, Female, Antibody, Pulmonary alveolar proteinosis, business
Abstract

Introduction Pulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. PAP has been reported to be associated with a large number of clinical conditions and diseases. Whole lung lavages can be helpful to stabilize the clinical course of PAP until the underlying condition is identified, which may enable more specific treatment. Recently, heterozygous OAS1 gain-of-function variants were described as cause in a patient with infantile-onset PAP combined with hypogammaglobulinemia. Case presentation At age 4 months, a female infant born to term was diagnosed with hypogammaglobulinemia and treated with monthly immunoglobulin injections. At age 15 months, the girl needed supplemental oxygen at night, and at age 18 months, also during the day. At age 2 years, pulmonary alveolar proteinosis of unknown etiology was diagnosed by computed tomography scan and open lung biopsy. Subsequently, monthly whole lung lavages (WLLs) were started, which stabilized the clinical course for over 2 years until a disease-causing OAS1 variant was diagnosed and the patient was successfully treated by hematopoietic stem cell transplantation. Conclusion Here, we describe the successful management of a female patient with severe PAP caused by a heterozygous OAS1 gain-of-function variant until a definitive diagnosis was made and cured by hematopoietic stem cell transplantation. This article is protected by copyright. All rights reserved.

Published
2021

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

Author

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

Subjects
0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract

BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

15. Incidence of subsequent malignancies after total body irradiation-based allogeneic HSCT in children with ALL - long-term follow-up from the prospective ALL-SCT 2003 trial

Author

Anna Eichinger, Ulrike Poetschger, Evgenia Glogova, Peter Bader, Oliver Basu, Rita Beier, Birgit Burkhardt, Carl-Friedrich Classen, Alexander Claviez, Selim Corbacioglu, Hedwig E. Deubzer, Johann Greil, Bernd Gruhn, Tayfun Güngör, Kinan Kafa, Jörn-Sven Kühl, Peter Lang, Bjoern Soenke Lange, Roland Meisel, Ingo Müller, Martin G. Sauer, Paul-Gerhardt Schlegel, Ansgar Schulz, Daniel Stachel, Brigitte Strahm, Angela Wawer, Christina Peters, and Michael H. Albert

Subjects
Cancer Research, Transplantation Conditioning, Incidence, Medizin, Hematopoietic Stem Cell Transplantation, Graft vs Host Disease, Hematology, Oncology, Neoplasms, Humans, Transplantation, Homologous, Prospective Studies, Child, Busulfan, Cyclophosphamide, Whole-Body Irradiation, Follow-Up Studies, Etoposide
Abstract

Total body irradiation (TBI)-based conditioning is associated with superior leukemia-free survival in children with ALL undergoing HSCT. However, the risk for subsequent malignant neoplasms (SMN) remains a significant concern. We analyzed 705 pediatric patients enrolled in the prospective ALL-SCT-BFM-2003 trial and its subsequent registry. Patients >2 years received conditioning with TBI 12 Gy/etoposide (n = 558) and children ≤2 years of age or with contraindications for TBI received busulfan/cyclophosphamide/etoposide (n = 110). The 5- and 10-year cumulative incidence of SMN was 0.02 ± 0.01 and 0.13 ± 0.03, respectively. In total, 39 SMN (34 solid tumors, 5 MDS/AML) were diagnosed in 33 patients at a median of 5.8 years (1.7–13.4), exclusively in the TBI group. Of 33 affected patients, 21 (64%) are alive at a median follow-up of 5.1 years (0–9.9) after diagnosis of their first SMN. In univariate analysis, neither age at HSCT, donor type, acute GVHD, chronic GVHD, nor CMV constituted a significant risk factor for SMN. The only significant risk factor was TBI versus non-TBI based conditioning. This analysis confirms and quantifies the increased risk of SMN in children with ALL after conditioning with TBI. Future strategies to avoid TBI will need careful tailoring within prospective, controlled studies to prevent unfavorable outcomes.

Published
2022

16. Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort

Author

Rita Beier, Marina Cavazzana, Figen Dogu, Yves Bertrand, Paul Veys, Francesca Ferrua, Robbert G. M. Bredius, Roland Meisel, Arnalda Lanfranchi, Renata Formankova, Stéphane Blanche, Virginie Courteille, Elena Soncini, Tayfun Güngör, Jolanta Gozdzik, Kim Vettenranta, Krzysztof Kałwak, Mikael Alligon, Natacha Entz-Werle, Ansgar Schulz, Nizar Mahlaoui, Savaş Kansoy, Wilhelm Friedrich, Amos Toren, Mehmet A. Yeşilipek, Alina Ferster, Andrew R. Gennery, Mary Slatter, Despina Moshous, Fulvio Porta, Marco Zecca, Anders Fasth, Karoline Ehlert, Gérard Michel, Bénédicte Neven, Victoria Bordon, Alphan Kupesiz, Mikael Sundin, Kanchan Rao, Cristina Diaz-de-Heredia, Isabelle Badell Serra, Michael H. Albert, Herbert Pichler, Arjan C. Lankester, Andrew J. Cant, Marta González-Vicent, Petr Sedlacek, Jose Moraleda, Caroline A. Lindemans, Peter Bader, Manfred Hoenig, Alain Fischer, Austen Worth, Dmitry Balashov, Erik G J von Asmuth, Carsten Speckmann, Nuno Miranda, Aydan Ikinciogullari, Clinicum, Children's Hospital, Lastentautien yksikkö, HUS Children and Adolescents, University of Zurich, Lankester, Arjan C, Institut Català de la Salut, [Lankester AC, von Asmuth EGJ] Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Leiden, The Netherlands. [Neven B] Unité d’Immuno-hematologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. Université de Paris, Paris, France. Institut Imagine, INSERM UMR1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris, France. [Mahlaoui N, Courteille V, Alligon M] French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE), Hôpital Universitaire Necker-Enfants malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. [Diaz-de-Heredia C] Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Oncology, Transplantation Conditioning, medicine.medical_treatment, Hematopoietic stem cell transplantation, Cohort Studies, 0302 clinical medicine, conditioning, Immunology and Allergy, OUTCOMES, 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Hematopoietic Stem Cell Transplantation, immune reconstitution, 3. Good health, surgical procedures, operative, medicine.anatomical_structure, Cohort, 2723 Immunology and Allergy, SURVIVAL, Malalties congènites, Unrelated Donors, medicine.medical_specialty, Immunology, 610 Medicine & health, pretransplantation infections, SCID, 03 medical and health sciences, Internal medicine, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades del recién nacido::inmunodeficiencia combinada grave [ENFERMEDADES], Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, genetic subgroups, Interleukin-7 receptor, 030304 developmental biology, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Infant, Newborn, Diseases::Severe Combined Immunodeficiency [DISEASES], 2403 Immunology, Severe combined immunodeficiency, Cèl·lules mare hematopoètiques - Trasplantació, business.industry, medicine.disease, Anti-thymocyte globulin, Transplantation, RECONSTITUTION, Graft-versus-host disease, 10036 Medical Clinic, 3121 General medicine, internal medicine and other clinical medicine, Severe Combined Immunodeficiency, Bone marrow, business, 030215 immunology
Abstract

Genetic subgroups; Immune reconstitution; Pretransplantation infections Subgrupos genéticos; Reconstitución inmune; Infecciones previas al trasplante Subgrups genètics; Reconstitució immune; Infeccions prèvies al trasplantament Background Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. Objective We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR) and the predictive value for clinical outcome. Methods HSCT outcome was studied in 338 patients with genetically confirmed SCID who underwent transplantation in 2006-2014 and who were registered in the SCETIDE registry. In a representative subgroup of 152 patients, data on IR and long-term clinical outcome were analyzed. Results Two-year OS was similar with matched family and unrelated donors and better than mismatched donor HSCT (P < .001). The 2-year event-free survival (EFS) was similar in matched and mismatched unrelated donor and less favorable in mismatched related donor (MMRD) HSCT (P < .001). Genetic subgroups did not differ in 2-year OS (P = .1) and EFS (P = .073). In multivariate analysis, pretransplantation infections and use of MMRDs were associated with less favorable OS and EFS. With a median follow-up of 6.2 years (range, 2.0-11.8 years), 73 of 152 patients in the IR cohort were alive and well without Ig dependency. IL-2 receptor gamma chain/Janus kinase 3/IL-7 receptor–deficient SCID, myeloablative conditioning, matched donor HSCT, and naive CD4 T lymphocytes >0.5 × 10e3/μL at +1 year were identified as independent predictors of favorable clinical and immunologic outcome. Conclusion Recent advances in HSCT in SCID patients have resulted in improved OS and EFS in all genotypes and donor types. To achieve a favorable long-term outcome, treatment strategies should aim for optimal naive CD4 T lymphocyte regeneration.

Published
2022

17. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Paula Kjollerstrom, Marta Derecka, Brigitte Schlegelberger, Peter Lang, Dirk Lebrecht, Manching Ku, Birgit Burkhardt, Robert Durruthy-Durruthy, Marcin W. Wlodarski, Martin Čermák, Albert Català, Kalliopi Manola, Nadine Van Roy, Ingrid Simonitsch-Kluppp, Roos Leguit, Peter Bader, Barbara Gazic, Yaniv Zohar, Kalliopi Stefanaki, Michael Dworzak, Maureen O’Sullivan, Roland Meisel, Sophia Polychronopoulou, Emilia J Kozyra, Rita De Vito, David Betts, Pritam Kumar Panda, Amina Szvetnik, Peter Noellke, Brigitte Strahm, Julius Wehrle, Helena Podgornik, Carole Gengler, Valerie de Haas, Krisztián Kállay, Zuzana Zemanova, Luis Mascarenhas de Lemos, Marena R. Niewisch, Joelle Tchinda, Ayami Yoshimi-Noellke, Margarita Llavador Ros, Charlotte M. Niemeyer, Ivana Bodova, Gunnar Cario, Charnise Goodings, Berna Beverloo, Karin Nebral, Hajnalka Andrikovics, Dominik Turkiewicz, Pascale De Paepe, Sushree S. Sahoo, Owen P. Smith, Christian Flotho, Jan Starý, Marek Ussowicz, Jadwiga Maldyk, Riccardo Masetti, Stephan Schwarz-Furlan, Gudrun Göhring, Vit Campr, Francesco Pasquali, Irith Baumann, Henrik Hasle, Michael H. Albert, Shlomit Barzilai, Oksana Fabri, Helena Alaiz, Erik Clasen-Linde, Victor B Pastor, Miriam Erlacher, Kirsi Jahnukainen, Tine Plesner, Franco Locatelli, Olga Haus, Rebecca K Voss, Marta Jeison, Lukas Plank, Markus Schmugge, Rita Beier, José Cervera, Barbara De Moerloose, Owen Smith, Martina Rudelius, Ingo Müller, Jochen Buechner, Marko Kavcic, Martin Sauer, Ansgar Schulz, Judit Csomor, and Shinsuke Hirabayashi

Subjects
Evolutionary biology, Clonal hematopoiesis, General Medicine, Biology, General Biochemistry, Genetics and Molecular Biology
Published
2021

18. Publisher Correction: Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia

Author

Claudia R. Ball, Evelin Schröck, Christof von Kalle, Benedikt Brors, Christoph E. Heilig, Laura Gieldon, Michael H. Albert, Sebastian Uhrig, Christian Braun, Claudia Scholl, Peter Horak, Barbara Hutter, Manfred G. Schmidt, Hanno Glimm, Maximilian Witzel, Tim Rath, Xavier Pastor, Daniela Richter, Irene Gil-Farina, Christoph Klein, Gnana Prakash Balasubramanian, and Stefan Fröhling

Subjects
Cancer Research, medicine.anatomical_structure, Oncology, business.industry, Lymphoblastic Leukemia, Genetic enhancement, T cell, Cancer research, Medicine, Hematology, business
Published
2021

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