Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CHUKComment on list classification: New gene added by Inga Nartisa. Biallelic variants are typically associated with Cocoon syndrome (MIM# 613630; definitive in G2P) or Popliteal pterygium syndrome (MIM# 619339), but immune deficits are not known to be associated. Only a single patient with a history of recurrent pneumonias and failure to thrive identified to date with a homozygous variant in this gene (PMID: 34533979). Therefore, rating Red for now, awaiting further cases/reports that corroborate this association.Created: 17 May 2023, 2:09 p.m. | Last Modified: 17 May 2023, 2:09 p.m.
Panel Version: 4.12
Sources: Expert Review, LiteratureCreated: 29 Nov 2022, 9:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver
Publications
Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979
Gene: chuk has been classified as Red List (Low Evidence).
gene: CHUK was added gene: CHUK was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979 Phenotypes for gene: CHUK were set to recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver Review for gene: CHUK was set to GREEN