Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report
Date
2020-06-05
Journal Title
Journal ISSN
Volume Title
Publisher
BioMed Central
Abstract
Background: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is
identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The
syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide
clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia.
In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the
classic signs and symptoms, which may intersect with other thrombocytopenia causes.
Case presentation: Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin
rashes, features of autoimmunity and atopy. However, platelets were initially reported as normal in numbers and
morphology as were baseline immune investigations. An older male sibling had died in infancy from suspected
immunodeficiency. Uncertainty of diagnosis and suspected severe PIDD prompted urgent further molecular
investigation. Whole exome sequencing identified c. 397 G > A as a novel hemizygous missense mutation located in
exon 4 of WAS.
Conclusion: With definitive molecular diagnosis, we could target treatment and offer genetic counselling and
prenatal diagnostic testing to the family. The identification of novel variants is important to confirm phenotype
variations of a syndrome.
Description
CITATION: Glanzmann, B., et al. 2020. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report. BMC Medical Genetics, 21:124, doi:10.1186/s12881-020-01054-6.
The original publication is available at https://bmcmedgenet.biomedcentral.com
The original publication is available at https://bmcmedgenet.biomedcentral.com
Keywords
Exome sequencing, Wiskott-Aldrich syndrome,, Immune deficiency, Immunological deficiency syndromes
Citation
Glanzmann, B., et al. 2020. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report. BMC Medical Genetics, 21:124, doi:10.1186/s12881-020-01054-6