WISKOTT-ALDRICH SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: WIPF1 DEFICIENCY
WAS2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614493
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000964) Eczema 81 / 7739
2
(HPO:0012178) Reduced natural killer cell activity 3 / 7739
3
(HPO:0005415) Decreased number of CD8+ T cells 3 / 7739
4
(HPO:0001873) Thrombocytopenia 224 / 7739
5
(HPO:0002719) Recurrent infections 107 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lanzi et al. (2012) reported an 11-day-old female Moroccan infant with Wiskott-Aldrich syndrome-2 (WAS2). She was born to consanguineous parents who had previously lost a daughter at age 4 months with recurrent infections. The WAS2 patient presented with ...
Molecular genetics OMIM In the infant they reported with WAS2, Lanzi et al. (2012) identified a homozygous ser434-to-ter (S434X; 602357.0001) mutation in the WIPF1 gene. Both parents were heterozygous for the mutation. Expression of WIPF1 in the patient's T cells corrected ...