Wiskott-Aldrich Syndrome

Yoonessi, Leila; Randhawa, Inderpal; Nussbaum, Eliezer; Saharti, Samah; Do, Paul; Chin, Terry; Zwerdling, Theodore

doi:10.1097/mph.0000000000000392

Cited by 7 publications

(3 citation statements)

References 10 publications

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“…MPV used to be a useful tool to differentiate WAS/XTL and ITP. However, microthrombocytopenia may occasionally not be present, and some WAS patients have been found to have normal MPV (15, 16) or macrothrombocytopenia (2, 17). Though the MPV in WAS/XLT patients in our study was smaller than that in ITP patients, the difference was not statistically significant.…”

Section: Discussionmentioning

confidence: 99%

“…WAS is traditionally differentiated from ITP by the small size of WAS platelets (14). In practice, microthrombocytopenia may occasionally not be present and some WAS patients have normal mean platelet volume (MPV) (15, 16) or macrothrombocytopenia (2, 17). Therefore, differentiation of the disease from ITP is not always easy on clinical grounds.…”

Section: Introductionmentioning

confidence: 99%

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When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura

Jin

Chen

et al. 2019

Front. Immunol.

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Background: Wiskott-Aldrich syndrome (WAS) is a rare and severe X-linked disorder with variable clinical phenotypes correlating with the type of mutations in the WAS gene. The syndrome is difficult to differentiate from idiopathic thrombocytopenic purpura (ITP) before genetic diagnosis. We retrospectively reviewed patients suspected to have WAS who were referred to our hospital from 2004 to 2016 and compared the clinical features and laboratory examination of genetically confirmed WAS patients and of patients diagnosed with ITP in order to seek some clues to distinguish WAS and ITP before genetic diagnosis. Methods: Seventy-eight children suspected to have WAS from 78 unrelated families were enrolled in this study. The clinical data and laboratory examination of children were reviewed in the present study. The distribution of lymphocyte subsets from peripheral blood was examined by how cytometry. WASP mutations were identified by direct sequencing of PCR-amplified genomic DNA. Results: Forty-two patients were finally diagnosed with WAS genetically. The median onset age of these patients was 1 month (range: 1 day−10 months). The median diagnosis lag was 4.6 months (range: 0 months−9.42 years). Fifteen patients (35.71%) had positive family histories. More than half of the patients ( n = 23, 54.76%) had diarrhea. Twenty-three (54.76%) had pneumonia, 7 with severe symptoms. Major bleeding events included skin spots or petechiae ( n = 27, 64.29%), per-rectal bleeding ( n = 21, 50.00%), epistaxis ( n = 7, 16.67%) and intracranial bleeding ( n = 2, 4.76%). Twenty-nine patients (69.05%) had eczema, and one patient had a drug allergy. Three patients had autoimmune diseases, among whom 2 had autoimmune hemolytic anemia and one had autoimmune hemolytic anemia and IgA nephropathy. A total of 42 mutations in WASP were identified, including 19 novel mutations. Eight patients received hematopoietic stem cell transplantation (HSCT) and all survived. Compared with the 30 patients diagnosed with ITP, the WAS patients had higher EOS counts and elevated IgE level, increased NK cell numbers but fewer CD8 + T lymphocytes. Conclusion: The WAS gene diagnosis should be considered in all males with ITP-like features, especially for patients with a very early onset age, decreased MPV (<6.5 fl), higher EOS counts and elevated IgE level, increased NK cell number, diminished CD8 + T lymphocyte count.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura

Jin

Chen

et al. 2019

Front. Immunol.

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“…WAS almost exclusively affects males and the estimated incidence is less than 1 in 100,000 live births [5]. One of the hallmark characteristics of this disease is microthrombocytopenia, which is observed on a blood film and subsequently quantified using blood analysers [6]. 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 thrombocytopenia causes [7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

et al. 2020

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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.

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