Defects of intrinsic and innate immunity
Gene: SPPL2A
3 patients from 2 unrelated consanguineous families with BCG disease. Functional studies and mouse model replicating phenotype
Sources: LiteratureCreated: 21 Nov 2023, 1:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacterial disease
Publications
Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert listCreated: 5 Apr 2020, 7:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Publications
Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Gene: sppl2a has been classified as Amber List (Moderate Evidence).
gene: SPPL2A was added gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to 30127434 Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella Review for gene: SPPL2A was set to AMBER