Combined Immunodeficiency

Gene: SP110

Green List (high evidence)

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

• 20301448
• 31721003