A rare X-linked recessive disease.
- symptoms appear during first year of life.
- abnormalities of humoral immunity begin within the first 6 months of life
- leading to the inability to produce Antibodies to polysaccharide antigens causing susceptibility to encapsulated microbes
- decreased serum IgM and increased serum IgA and IgE levels present
- T-cell dysfunction is initially mild, yet progressively deteriorates.
- thrombocytopenia (bruising )
- immune deficiency (recurrent infections)
- bloody diarrhea (secondary to the thrombocytopenia).
- predisposition to the development of certain cancers (Hodgkin lymphoma and leukemia)
- eczema symptoms management
- infection control
- management of bleeding episodes with transfusions as necessary
Martin, Glenn and Porth, Carol, Mattson. 2009. Pathophysiology Concepts of Altered Health States. 8th ed. Lippincott Williams and Wilkins. Philadelphia