Combined Immunodeficiency
Gene: NFATC1EnsemblGeneIds (GRCh38): ENSG00000131196
EnsemblGeneIds (GRCh37): ENSG00000131196
OMIM: 600489, Gene2Phenotype
NFATC1 is in 4 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
3 patients from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective.
Single pedigree but supportive functional studies - ?green.
Sources: LiteratureCreated: 1 Jun 2023, 3:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined Immune deficiency
Publications
- PMID: 37249233
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Inborn error of immunity, MONDO:0003778, NFATC1-related
- Combined Immune deficiency
- OMIM
- 600489
- Clinvar variants
- Variants in NFATC1
- Penetrance
- None
- Publications
-
- PMID: 37249233
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfatc1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NFATC1 were changed from Combined Immune deficiency to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfatc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: NFATC1 was added gene: NFATC1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to PMID: 37249233 Phenotypes for gene: NFATC1 were set to Combined Immune deficiency Review for gene: NFATC1 was set to AMBER