Combined Immunodeficiency
Gene: TBCE
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Patients frequently display impaired mitogen responses, T cell-dependent antibody responses, and reduced frequencies of CD4 + and CD8 + effector memory of CD4 + and CD8 + TEMRA and naive B cells, with an increased proportion of CD21lowCD27- B-cell populations.
They suffer from varied bacterial infections in spite of amoxicillin prophylaxis and display opportunistic viral and fungal infections.
Sources: LiteratureCreated: 23 Oct 2022, 9:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immune deficiency with syndromic features
Publications
Gene: tbce has been classified as Green List (High Evidence).
Phenotypes for gene: TBCE were changed from Combined immune deficiency with syndromic features to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Gene: tbce has been classified as Green List (High Evidence).
gene: TBCE was added gene: TBCE was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PMID: 36258138 Phenotypes for gene: TBCE were set to Combined immune deficiency with syndromic features Review for gene: TBCE was set to GREEN