Combined Immunodeficiency
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, 2:23 a.m. | Last Modified: 12 Aug 2021, 2:23 a.m.
Panel Version: 0.309
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 has been classified as Green List (High Evidence).
Phenotypes for gene: SP110 were changed from to 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
Tag founder tag was added to gene: SP110.
Publications for gene: SP110 were set to
Mode of inheritance for gene: SP110 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: SP110 was added gene: SP110 was added to Combined immunodeficiency_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