Disorders of immune dysregulation
Gene: PDCD1
Single patient born to consanguineous parents presenting with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA)
Sources: LiteratureCreated: 12 Jul 2022, 6:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex Autoimmunity
Publications
No OMIM gene disease association.
1 individual from a consanguineous family reported with PDCD1 deficiency.
PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.Created: 11 Apr 2022, 7:18 a.m. | Last Modified: 11 Apr 2022, 7:19 a.m.
Panel Version: 0.12855
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?PDCD1 deficiency
Publications
Phenotypes for gene: PDCD1 were changed from Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
Gene: pdcd1 has been classified as Red List (Low Evidence).
Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity to Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778
Gene: pdcd1 has been classified as Red List (Low Evidence).
gene: PDCD1 was added gene: PDCD1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD1 were set to PMID: 34183838 Phenotypes for gene: PDCD1 were set to Complex Autoimmunity Review for gene: PDCD1 was set to RED