Further clinical info: Pt also had eczema.
Lab test: IgA and IgE were markedly increased, IgG within normal range, IgM low to mormal.
Molecular test: hemizygous frameshift mutation in the WASP gene
Diagnosis: Wiskott–Aldrich syndrome
Rare X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). Pt has risk to develop autoimmune disorder and malignancy (mainly lymphoma and leukemia).
Cause: mutations in a gene on the short arm of the X chromosome, which was termed Wiskott-Aldrich syndrome protein gene (WASp)
The WASp gene codes for the protein WASp, mainly expressed in hematopoietic cells. The main function of WASp is to activate actin polymerization by binding to the Arp2/3 complex. In T-cells, WASp is important because it is known to be activated via T-cell receptor signaling pathways to induce cortical actin cytoskeleton rearrangements that are responsible for forming the immunological synapse.
Lab test: IgA and IgE were markedly increased, IgG within normal range, IgM low to mormal.
Molecular test: hemizygous frameshift mutation in the WASP gene
Diagnosis: Wiskott–Aldrich syndrome
Rare X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). Pt has risk to develop autoimmune disorder and malignancy (mainly lymphoma and leukemia).
Cause: mutations in a gene on the short arm of the X chromosome, which was termed Wiskott-Aldrich syndrome protein gene (WASp)
The WASp gene codes for the protein WASp, mainly expressed in hematopoietic cells. The main function of WASp is to activate actin polymerization by binding to the Arp2/3 complex. In T-cells, WASp is important because it is known to be activated via T-cell receptor signaling pathways to induce cortical actin cytoskeleton rearrangements that are responsible for forming the immunological synapse.