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European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, 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.Science (New York, N.Y.)|March 15, 2003
Pyogenic bacterial infections in humans with IRAK-4 deficiencyCapucine Picard, Anne Puel, Marion Bonnet, et al.Science Advances|December 3, 2021
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiencyIoanna A Rota, Adam E Handel, Stefano Maio, et al.Nature Genetics|December 8, 2015
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiencyHaifa H Jabara, Steven E Boyden, Janet Chou, 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.The Journal of Allergy and Clinical Immunology|April 13, 2017
Thymus transplantation for complete DiGeorge syndrome: European experienceE Graham Davies, Melissa Cheung, Kimberly Gilmour, et al.Blood|July 14, 2012
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiencyAmel Hassan, Claire Booth, Alex Brightwell, et al.Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.Pageof 16