Combined Immunodeficiency
Gene: FOXI3
2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain.
Sources: Expert listCreated: 10 Nov 2024, 3:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
thymic dysplasia MONDO:0004195
Publications
Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Gene: foxi3 has been classified as Amber List (Moderate Evidence).
gene: FOXI3 was added gene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXI3 were set to 35987349; 31600545 Phenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195 Review for gene: FOXI3 was set to AMBER