Primary immunodeficiencyGene: ALPI
Comment on list classification: Changing rating from red to amber. 2 cases reported plus some functional data.
Created: 23 Apr 2020, 2:11 a.m. | Last Modified: 23 Apr 2020, 2:11 a.m.
Panel Version: 2.128
Not associated with a phenotype in OMIM or Gene2Phenotype.
PMID: 29567797 - Parlato et al 2018- report ALPI mutations in two unrelated patients with severe intestinal inflammation and autoimmunity. WES was used. Patient 1 - non‐consanguineous parents. At 2 years old was diagnosed with coeliac disease from HLA-typing. At age 3 had recurrent abdominal pain, rectal bleeding and severe diarrhoea. Patient 2 - non‐consanguineous parents of Jewish Ashkenazi origin. Age 15 he was diagnosed with ileocolonic Crohn's disease. Compound heterozygous mutations in the ALPI gene were found in both patients. Three variants result in the substitution of residues highly conserved across species (A97T, A350V and A360) and one variant (Q439X) introducing a premature stop codon. Functional studies in HEK293T cells showed that all ALPI mutations were loss of function. ALPI expression was reduced in patients’ biopsies.
Created: 23 Apr 2020, 2:08 a.m. | Last Modified: 23 Apr 2020, 2:09 a.m.
Panel Version: 2.127
Two unrelated individuals, some functional data.
Created: 9 Apr 2020, 12:39 a.m. | Last Modified: 9 Apr 2020, 12:39 a.m.
Panel Version: 2.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene: alpi has been classified as Amber List (Moderate Evidence).
Publications for gene ALPI were updated from 32086639; 32048120 to 32086639; 32048120; 29567797
gene: ALPI was added gene: ALPI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPI were set to 32086639; 32048120 Phenotypes for gene: ALPI were set to Autoinflammatory Disorders; ALPI deficiency; Inflammatory bowel disease