TY - JOUR
T1 - A novel mutation in WAS gene causing a phenotypic presentation of wiskott-aldrich syndrome
T2 - A case report
AU - Ochfeld, Elisa
AU - Grayer, Dannielle
AU - Sharma, Ruchika
AU - Schneiderman, Jennifer
AU - Giordano, Lisa
AU - Makhija, Melanie
N1 - Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/3
Y1 - 2021/3
N2 - Background:Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immunodeficiency, thrombocytopenia, and atopic dermatitis.Observations:This infant presented at birth with petechiae and bruising, with severe neonatal thrombocytopenia. Genetic testing for WAS revealed a variant of unknown significance hemizygous missense mutation in the WAS gene. This variant has not previously been reported. On the basis of the patient's clinical course including bleeding, infection, abnormal immune evaluation, and dermatologic sequelae, he was diagnosed with WAS and underwent allogeneic hematopoietic stem cell transplantation.Conclusions:We report a novel mutation in the WAS gene that causes a phenotypic presentation of Wiskott-Aldrich Syndrome.
AB - Background:Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immunodeficiency, thrombocytopenia, and atopic dermatitis.Observations:This infant presented at birth with petechiae and bruising, with severe neonatal thrombocytopenia. Genetic testing for WAS revealed a variant of unknown significance hemizygous missense mutation in the WAS gene. This variant has not previously been reported. On the basis of the patient's clinical course including bleeding, infection, abnormal immune evaluation, and dermatologic sequelae, he was diagnosed with WAS and underwent allogeneic hematopoietic stem cell transplantation.Conclusions:We report a novel mutation in the WAS gene that causes a phenotypic presentation of Wiskott-Aldrich Syndrome.
KW - Hematopoietic stem cell transplant
KW - Novel genetic mutation
KW - Wiskott-Aldrich syndrome
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U2 - 10.1097/MPH.0000000000001790
DO - 10.1097/MPH.0000000000001790
M3 - Article
C2 - 32287099
AN - SCOPUS:85084312333
SN - 1077-4114
VL - 43
SP - e234-e236
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 2
ER -