Wiskott-Aldrich Syndrome

Mit változtat a diagnózis

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

Vizsgált gének

Más néven

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

Mit változtat a diagnózis

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

Vizsgált gének

Más néven

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

Mit változtat a diagnózis

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

Vizsgált gének

Más néven

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