Primary immunodeficiencyGene: ITPKB
Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with a recommended Red gene rating based on evidence provided. PMID: 31987846 describes a patient born of consanguineous Egyptian parents. The patient failed to thrive and had persistent thrush shortly after birth, recurrent pneumonias beginning at age 2 months, and Klebsiella pneumoniae skin abscesses at age 6 and 10 months. She had severe SCID.
PMID: 14517551 is a itpkb-/- mouse. Knockout of the gene caused a severe T cell deficiency. Based on these 2 pieces of information the gene has been given an Amber gene rating.
Created: 5 May 2020, 10:43 a.m. | Last Modified: 5 May 2020, 10:43 a.m.
Panel Version: 2.147
Single individual with homozygous bi-allelic LoF variant reported.
Created: 1 May 2020, 12:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Gene: itpkb has been classified as Amber List (Moderate Evidence).
Publications for gene: ITPKB were set to 31987846
gene: ITPKB was added gene: ITPKB was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPKB were set to 31987846 Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells Review for gene: ITPKB was set to RED