Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.
Scand J Immunol
; 95(1): e13115, 2022 Jan.
Article
en En
| MEDLINE
| ID: mdl-34758123
ABSTRACT
Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Wiskott-Aldrich
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Leucocitos Mononucleares
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Proteína del Síndrome de Wiskott-Aldrich
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Mutación
País/Región como asunto:
Asia
Idioma:
En
Revista:
Scand J Immunol
Año:
2022
Tipo del documento:
Article