Search

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). [ABSTRACT FROM AUTHOR]

Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype. Platelet aggregation tests and flow cytometric studies were performed, along with gene sequencing. Both probands were classified as grade III of bleeding. Platelet aggregation was absent or defective upon stimulation with physiological stimuli like AA and ADP, but platelets agglutinated normally in response to ristocetin. MFI values were considerably reduced. Gene sequencing showed ITGB3 mutations p.Cys549Ser/p.Leu705CysfsTer4 in proband 1 and p.Cys549Ser/p.Gln254Lys in proband 2 and her sister. This study reports one novel ITGB3 mutant gene, p.Gln254Lys, of which we will explore the potential pathogenicity. [ABSTRACT FROM AUTHOR]

Competing Interests: Competing interests: The authors declare no conflict of Interest.

Competing Interests: Competing interests: The authors declare no conflict of Interest.

Competing Interests: Competing interests: The authors declare no conflict of Interest.