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Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Science Immunology|June 19, 2021
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiencyThomas Magg, Tsubasa Okano, Lars M Koenig, et al.
Journal of Clinical Immunology|March 14, 2026
Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening ProgramLea Graafen, Carsten Speckmann, Shahrzad Bakhtiar, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2024
Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party studyChristo Tsilifis, Carsten Speckmann, Su Han Lum, et al.
Journal of Clinical Immunology|February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.
Blood|December 25, 2015
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescentsMarcin W Wlodarski, Shinsuke Hirabayashi, Victor Pastor, et al.
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