Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Abstract

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… (More)
DOI: 10.1111/cge.12916

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Cite this paper

@article{Hubshman2017HomozygousDO, title={Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.}, author={Monika Weisz Hubshman and Lina Basel-Vanagaite and A. R. Krauss and Osnat Konen and Y. Levy and Ben-zion Garty and P. Smirin-Yosef and Ivan D. Maya and Irena Lagovsky and Ellen Taub and Dafna Marom and Dafna Gaash and Keren Shichrur and Smadar Avigad and L Hayman-Manzur and Anna Villa and Christina Sobacchi and Moran Shohat and Irit Yaniv and John Stein}, journal={Clinical genetics}, year={2017}, volume={91 6}, pages={902-907} }