Predominantly Antibody Deficiency
Gene: CTNNBL1
A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:004601
Sources: Expert listCreated: 11 Nov 2024, 7:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
common variable immunodeficiency MONDO:0015517
Publications
PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: LiteratureCreated: 18 Sep 2020, 12:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Publications
PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: LiteratureCreated: 17 Sep 2020, 1:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Publications
Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
gene: CTNNBL1 was added gene: CTNNBL1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNBL1 were set to 23343763; 32484799 Phenotypes for gene: CTNNBL1 were set to common variable immunodeficiency MONDO:0015517 Review for gene: CTNNBL1 was set to AMBER