Cytopenias and congenital anaemias
Gene: WIPF1
Comment on list classification: changed rating from Red to GreenCreated: 6 Jul 2018, 9:25 a.m.
upgraded rating due to PID panel update and additional supporting Green review from external expertCreated: 6 Jul 2018, 9:24 a.m.
Two unrelated cases reported in the literature. The first report was an 11-day-old Moroccan girl with Wiskott-Aldrich syndrome-2, this second described was from a large consanguineous family with 4 affecteds, a further 8 cases did not have the chance for full evaluation due to early infantile death, but it as assumed they had the same disease-based clinical presentation of recurrent infections, bloody diarrhea, and thrombocytopenia. From Al-Mousa H et al. (2017) PMID: 27742395 identified a second family with WIP deficiency. Two variants have now been described in the literature, homozygous ser434-to-ter (S434X; 602357.0001) and a homozygous nonsense mutation (c.709 C>T) (p.Q237X) in the WIPF1 gene. Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease characterized by immune deficiency, thrombocytopenia, and eczema. A novel primary immunodeficiency had previously been reported in a single patient with a nonsense mutation in WIPF1 (PMID:22231303 ), the gene that encodes WIP, producing a protein that lacks a WASP-binding site with defective WASP expression. This single patient was reported to have been successfully transplanted using unrelated umbilical cord stem cell. Details of stem cell transplantation and immune reconstitution were not provided PMID: 22231303. In Al-Mousa H et al. (2017) PMID: 27742395 reported 4 patients with WIP deficiency who underwent stem cell transplantation along with their detailed clinical features, stem cell transplantation, and immune reconstitution. All 4 patients presented with a history of recurrent infections and thrombocytopenia. They belonged to a large sibship of 12 in a highly consanguineous family originating from the Southern province of Saudi Arabia.Created: 6 Jul 2018, 9:22 a.m.
Comment on phenotypes: added OMIM code to denote molecular basis is still unknown. There is currently only one case reported for Wiskott-Aldrich syndrome 2 PMID:22231303. Wiskott-Aldrich syndrome 1 and 2 is characterized by thrombocytopenia, eczema, and recurrent infections.Created: 21 Feb 2017, 3:33 p.m.
Gene: wipf1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 22231303; 9405671; 11869681; 14757742; 27742395
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome like, WIP deficiency; WIP deficiency; ?Wiskott-Aldrich syndrome 2 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for WIPF1 were set to 22231303
Phenotypes for WIPF1 were set to ?Wiskott-Aldrich syndrome 2, 614493
Phenotypes for WIPF1 were set to ?Wiskott-Aldrich syndrome 2, 614493
WIPF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
WIPF1 was created by LouiseD