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| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | NUDCD3 |
Peter McNaughton gene: NUDCD3 was added gene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD3 were set to PMID: 38787962 Phenotypes for gene: NUDCD3 were set to Severe combined immunodeficiency; omenn syndrome Review for gene: NUDCD3 was set to GREEN Added comment: Multiple familial cases from 4 unrelated consanguineous kindreds of South Asian origin presenting with SCID or Omenn syndrome. Extensive functional validation including knock in mouse model demonstrating impaired VDJ recombination. Sources: Literature |
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