{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T13:22:03Z","timestamp":1769520123605,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,3,19]],"date-time":"2017-03-19T00:00:00Z","timestamp":1489881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Giovani Ricercatori from Ministero della Salute","award":["GR-2011-02348266"],"award-info":[{"award-number":["GR-2011-02348266"]}]},{"name":"European Community's Seventh Framework Program","award":["FP7\/2007-2013, SYBIL Project"],"award-info":[{"award-number":["FP7\/2007-2013, SYBIL Project"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>Mutations of several genes have been implicated in autosomal recessive osteopetrosis (<jats:styled-content style=\"fixed-case\">OP<\/jats:styled-content>), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (<jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>) can likewise result from different genetic mutations. We report two siblings with <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content> and an atypical phenotype of <jats:styled-content style=\"fixed-case\">OP<\/jats:styled-content>. A biallelic microdeletion encompassing the 5\u2032 region of <jats:italic><jats:styled-content style=\"fixed-case\">TRAF6<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">RAG1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">RAG2<\/jats:styled-content><\/jats:italic> genes was identified. <jats:styled-content style=\"fixed-case\">TRAF6<\/jats:styled-content>, a tumor necrosis factor receptor\u2010associated family member, plays an important role in T cell signaling and in <jats:styled-content style=\"fixed-case\">RANKL<\/jats:styled-content>\u2010dependent osteoclast differentiation and activation but its role in human <jats:styled-content style=\"fixed-case\">OP<\/jats:styled-content> has not been previously reported. The <jats:styled-content style=\"fixed-case\">RAG<\/jats:styled-content> proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of <jats:styled-content style=\"fixed-case\">TRAF6<\/jats:styled-content> as a cause of human disease.<\/jats:p>","DOI":"10.1111\/cge.12916","type":"journal-article","created":{"date-parts":[[2016,11,3]],"date-time":"2016-11-03T09:13:06Z","timestamp":1478164386000},"page":"902-907","source":"Crossref","is-referenced-by-count":11,"title":["Homozygous deletion of <scp>RAG1<\/scp>, <scp>RAG2<\/scp> and 5\u2032 region <scp>TRAF6<\/scp> causes severe immune suppression and atypical osteopetrosis"],"prefix":"10.1111","volume":"91","author":[{"given":"M.","family":"Weisz Hubshman","sequence":"first","affiliation":[{"name":"Pediatric Genetics Unit Schneider Children's Medical Center of Israel  Petach Tikva Israel"},{"name":"Raphael Recanati Genetic Institute Rabin Medical Center  Petach Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv 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