Inflammatory bowel disease
Gene: LY96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inborn error of immunity, MONDO:0003778, LY96-related
Single patient with infantile colitis associated with failure-to-thrive, bloody diarrhea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation.
Sources: LiteratureCreated: 24 Jan 2023, 3:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Colitis
Publications
Gene: ly96 has been classified as Red List (Low Evidence).
Phenotypes for gene: LY96 were changed from Colitis to Inborn error of immunity, MONDO:0003778, LY96-related; Colitis
Gene: ly96 has been classified as Red List (Low Evidence).
gene: LY96 was added gene: LY96 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY96 were set to PMID: 36462957 Phenotypes for gene: LY96 were set to Colitis Review for gene: LY96 was set to RED