Article
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Human molecular genetics - 20 Dec 2015
Volk Timo, Pannicke Ulrich, Reisli Ismail, Bulashevska Alla, Ritter Julia, Björkman Andrea, Schäffer Alejandro A, Fliegauf Manfred, Sayar Esra H, Salzer Ulrich, Fisch Paul, Pfeifer Dietmar, Di Virgilio Michela, Cao Hongzhi, Yang Fang, Zimmermann Karin, Keles Sevgi, Caliskaner Zafer, Güner S Ükrü, Schindler Detlev, Hammarström Lennart, Rizzi Marta, Hummel Michael, Pan-Hammarström Qiang, Schwarz Klaus, Grimbacher Bodo
Abstract excerpt
Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By...
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