Wiskott-Aldrich Syndrome
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Immunodeficiencies
- Selective IgA Deficiency
- Chediak-Higashi Syndrome
- DiGeorge Syndrome
- Bruton (X-linked) Agammaglobulinemia
- Hyper-IgM Syndrome
- IPEX
- Leukocyte Adhesion Deficiency (LAD)
- Chronic Granulomatous Disease (CGD)
- IL-12 Receptor Deficiency
- Wiskott-Aldrich Syndrome
Summary
Wiskott Aldrich Syndrome is an X-linked recessive immunodeficiency. Wiskott-Aldrich Syndrome is caused by a mutation in the WAS gene, which is an abbreviation for Wiskott-Aldrich Syndrome gene. This mutation in WAS results in problems with cytoskeleton reorganization in leukocytes and platelets. As a result, patients with Wiskott-Aldrich Syndrome develop recurrent infections (immunodeficiency), eczema, and thrombocytopenia.
Key Points
- Wiskott-Aldrich Syndrome
- Mutation in WAS gene
- WAS stands for Wiskott-Aldrich Syndrome
- Leukocytes and platelets unable to reorganize (actin) cytoskeleton
- Combined B- and T-cell disorder, with impaired antigen presentation
- X-linked Recessive
- Generally seen in male patients
- Presentation
- Immunodeficiency
- Recurrent pyogenic (purulent) infections
- Increased risk of autoimmune disease and malignancy
- Thrombocytopenia
- Excessive bleeding (due to impaired primary hemostasis)
- Eczema
- Immunodeficiency
- Lab Values (low-yield)
- Increased IgE and IgA
- Normal or decreased IgG
- Mutation in WAS gene