Predominantly Antibody Deficiency
Gene: SP110
9 individuals from 8 unrelated families; additionally over 15 individuals from Lebanese population with founder effect demonstrated; no mouse model
Homozygous deletion and missense variants reported; Common founder variant c.642delC (Lebanese population)
Typically, patients present in the first year of life with severe bacterial, viral, and fungal infections and liver disease with low Ig levels, mostly characterised by terminal hepatic lobular vascular occlusion and/or fibrosis.Created: 12 Aug 2021, 5:24 a.m. | Last Modified: 12 Aug 2021, 5:24 a.m.
Panel Version: 0.8767
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Hepatic veno-occlusive disease; susceptibility to Pneumocystis jirovecii pneumonia; cytomegalovirus; thrombocytopaenia; hepatosplenomegaly; cerebrospinal leukodystrophy; memory T/B cell deficiency; low Ig levels; absent tissue plasma cells; absent lymph node germinal centers; hypogammaglobulinaemia
Publications
gene: SP110 was added gene: SP110 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SP110 was set to Unknown