Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Immunology
Link
https://link.springer.com/content/pdf/10.1007/s00251-021-01219-4.pdf
Reference19 articles.
1. Bajin IY et al (2013) Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. Mol Immunol 56(4):354–7
2. Buckley RH (2012) The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol 129(3):597–604; quiz 605-6
3. de Villartay JP (2015) Congenital defects in V(D)J recombination. Br Med Bull 114(1):157–67
4. Ege M et al (2005) Omenn syndrome due to ARTEMIS mutations. Blood 105(11):4179–86
5. Felgentreff K et al (2015) Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. J Allergy Clin Immunol 136(1):140–150 e7
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