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Article

Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.

Immunogenetics - 1 Dec 2021

Mou Wenjun, Gao Liwei, He Jianxin, Yin Ju, Xu Baoping, Gui Jingang

Abstract excerpt

Artemis (DCLRE1C) is involved in opening recombination-activating gene (RAG1/RAG2)-generated hairpins during V(D)J recombination, an essential process for the differentiation and maturation of T and B cells. Here, we reported a case of 5-month-old boy with recurrent respiratory infections, disseminated Bacille Calmette-Guérin (BCG) infection, generalized erythroderma, hepatosplenomegaly, lymphadenopathy,...

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PMID: 34406419
DOI: 10.1007/s00251-021-01219-4

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