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American Journal of Human Genetics|May 21, 2011
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2Jessica C de Greef, Jun Wang, Judit Balog, et al.
The Journal of Allergy and Clinical Immunology|December 3, 2013
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiencyYu Nee Lee, Francesco Frugoni, Kerry Dobbs, et al.
Mutation Research. Reviews in Mutation Research|September 28, 2025
Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysisSaba Fekrvand, Zahra Hamidi Esfahani, Mohammadmehdi Yarahmadi, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
The Journal of Experimental Medicine|June 16, 2010
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiencyJolan E Walter, Francesca Rucci, Laura Patrizi, et al.
Blood|March 24, 2017
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcomeManfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, et al.
The Lancet. Haematology|October 18, 2016
Association of busulfan exposure with survival and toxicity after haemopoietic cell transplantation in children and young adults: a multicentre, retrospective cohort analysisImke H Bartelink, Arief Lalmohamed, Elisabeth M L van Reij, et al.
Bone Marrow Transplantation|March 25, 2022
Allogeneic hematopoietic stem cell transplantation for adult HLH: a retrospective study by the chronic malignancies and inborn errors working parties of EBMTRafal Machowicz, Felipe Suarez, Wieslaw Wiktor-Jedrzejczak, et al.
The Journal of Allergy and Clinical Immunology|June 12, 2017
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutationsJennifer W Leiding, Satoshi Okada, David Hagin, et al.
Science Immunology|August 8, 2017
Characterization of T and B cell repertoire diversity in patients with RAG deficiencyYu Nee Lee, Francesco Frugoni, Kerry Dobbs, et al.
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