Disorders of immune dysregulation
Gene: CD274
Homozygous for splicing variant. This is the ligand of PD1, deficiency of which is also linked to immune dysregulation. Functional data.Created: 2 Aug 2024, 1:58 a.m. | Last Modified: 2 Aug 2024, 1:58 a.m.
Panel Version: 0.190
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790
Two siblings, born to second-degree consanguineous parents of Moroccan descent,
both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By
contrast, his sister had no clinical manifestations other than T1D.
Sources: LiteratureCreated: 26 Jul 2024, 3:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation
Publications
Gene: cd274 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CD274 were changed from Immune dysregulation to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790
Gene: cd274 has been classified as Amber List (Moderate Evidence).
gene: CD274 was added gene: CD274 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD274 were set to PMID: 38634869 Phenotypes for gene: CD274 were set to Immune dysregulation Review for gene: CD274 was set to AMBER