Wiskott-Aldrich Syndrome

Co se diagnózou změní

Haematopoietic stem cell transplantation or gene therapy can be curative, and early diagnosis guides bleeding precautions, infection prevention and family testing.

Analyzované geny

Známé také jako

eczema thrombocytopenia immunodeficiency syndrome; Imd 2; immunodeficiency 2; WAS; Wiskott Aldrich syndrome; Wiskott-Aldrich syndrome 1; Wiskott-Aldrich syndrome, X-linked recessive

Co se diagnózou změní

Management mirrors classic Wiskott-Aldrich syndrome, including consideration of stem cell transplantation.

Analyzované geny

Známé také jako

WAS2; WIPF1 Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome caused by mutation in WIPF1; Wiskott-Aldrich syndrome type 2

Co se diagnózou změní

Knowing the cause avoids misdiagnosis as immune thrombocytopenia and guides bleeding precautions and monitoring.

Analyzované geny

Známé také jako

THC; THC1; thrombocytopenia type 1; thrombocytopenia, X-linked, intermittent, X-linked recessive; thrombocytopenia, X-linked, X-linked recessive; X-linked thrombocytopenia; X-linked thrombocytopenia with normal platelets; XLT