Combined Immunodeficiency
Gene: WIPF1
5 individuals from 2 unrelated families reported with WIPF1 variants resulting in WAS2 phenotype; 2 mouse models
2 homozygous nonsense variants have been identified that result in premature stop codon and truncated protein.
(c.709 C>T) (p.Q237X) AND (c.1301 C>G) (p.S434X)
Individuals have presented in infancy with recurrent chest infections, chronic diarrhoea, gastrointestinal bleeding and increased IgE levels.Created: 17 Aug 2021, 5:28 a.m. | Last Modified: 17 Aug 2021, 5:28 a.m.
Panel Version: 0.328
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent
Publications
Gene: wipf1 has been classified as Green List (High Evidence).
Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent
Publications for gene: WIPF1 were set to
Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: WIPF1 was added gene: WIPF1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: WIPF1 was set to Unknown