Disorders of immune dysregulation

Gene: PDCD1

Red List (low evidence)

PDCD1 (programmed cell death 1)
EnsemblGeneIds (GRCh38): ENSG00000188389
EnsemblGeneIds (GRCh37): ENSG00000188389
OMIM: 600244, Gene2Phenotype
PDCD1 is in 2 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

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

Krithika Murali (Victorian Clinical Genetics Services)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
OMIM
600244
Clinvar variants
Variants in PDCD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcd1 has been classified as Red List (Low Evidence).

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity to Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcd1 has been classified as Red List (Low Evidence).

12 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

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