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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.99 | CD48 |
Boaz Palterer gene: CD48 was added gene: CD48 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CD48 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CD48 were set to 31419545 Phenotypes for gene: CD48 were set to Hemophagocytic lymphohistiocytosis; Urticaria; Hives; Inflammation; Fever; Hepatosplenomegaly Penetrance for gene: CD48 were set to unknown Mode of pathogenicity for gene: CD48 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CD48 was set to RED Added comment: Volkmer et al. described a patient with heterozygous p.S220Y causing HLH-like phenotype. Variant is likely dominant negative Further patient described recently validating DN mechanism: https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.95/281844/S220-Variants-of-Human-CD48-Result-in-Aberrant Sources: Literature |
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