Disorders of immune dysregulation

Gene: PDCD1

Red List (low evidence)

Single patient born to consanguineous parents presenting with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA)
Sources: Literature

Created: 12 Jul 2022, 6:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex Autoimmunity

Publications

• PMID: 34183838

Red List (low evidence)

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

• 34183838