Primary immunodeficiency
Gene: STAT4Comment on list classification: Only one kindred reported with a heterozygous variant in STAT4 associated with susceptibility to paracoccidioidomycosis. Additional cases needed to validate pathogenicity and therefore keeping rating Red.Created: 7 Oct 2020, 1:16 p.m. | Last Modified: 7 Oct 2020, 1:16 p.m.
Panel Version: 2.200
- PMID: 29029192 (2017) - A heterozygous missense variant (c.1952 A>T, p.E651V) in STAT4 was identified in a female and her father, with a history of paracoccidioidomycosis. In vitro analysis using patient lymphocytes showed reduced STAT4 phosphorylation, nuclear translocation, and impaired IL-12–induced IFN-γ immunity.Created: 7 Oct 2020, 1:13 p.m. | Last Modified: 7 Oct 2020, 1:13 p.m.
Panel Version: 2.199
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Mode of inheritance
Unknown
Phenotypes
Paracoccidioidomycosis; Impaired IFN-γ Immunity
Publications
Potential risk allele for SLE. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.Created: 27 Sep 2019, 2:54 p.m. | Last Modified: 27 Sep 2019, 2:54 p.m.
Panel Version: 1.132
Phenotypes for gene: STAT4 were changed from {Systemic lupus erythematosus, susceptibility to, 11}, 612253 to Paracoccidioidomycosis; Impaired IFN-γ Immunity; {Systemic lupus erythematosus, susceptibility to, 11}, 612253
Publications for gene: STAT4 were set to
Mode of inheritance for gene: STAT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: stat4 has been classified as Red List (Low Evidence).
Source London North GLH was added to STAT4. Source Expert Review Red was added to STAT4. Source NHS GMS was added to STAT4. Rating Changed from No List (delete) to Red List (low evidence)
gene: STAT4 was added gene: STAT4 was added to Primary immunodeficiency. Sources: Mode of inheritance for gene: STAT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT4 were set to {Systemic lupus erythematosus, susceptibility to, 11}, 612253