Article
Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Clinical genetics - 1 Jun 2017
Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty B Z, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J
Abstract excerpt
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was...
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