Predominantly Antibody Deficiency
Gene: IKZF1Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 2:08 a.m. | Last Modified: 21 Jul 2020, 2:08 a.m.
Panel Version: 0.44
At least five unrelated families reported.
Sources: Expert listCreated: 5 Apr 2020, 1:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity
Publications
Gene: ikzf1 has been classified as Green List (High Evidence).
Gene: ikzf1 has been classified as Green List (High Evidence).
gene: IKZF1 was added gene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 21548011; 26981933 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity Review for gene: IKZF1 was set to GREEN