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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 | AMFR |
Boaz Palterer gene: AMFR was added gene: AMFR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: AMFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AMFR were set to 38277122 Phenotypes for gene: AMFR were set to Severe VZV; Varicella; HLH; Hemophagocytic lymphohistyocytosis Penetrance for gene: AMFR were set to Incomplete Review for gene: AMFR was set to RED Added comment: 1 patient from one kindred with severe disseminated VZV and HLH, incomplete penetrance as mother and siblings are not affected. Extensive functional ex-vivo and in-vitro data. Sources: Literature |
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