| Disease name |
Characteristic / Associated features |
Category |
inheritance type |
| Wiskott-Aldrich syndrome; X-linked thrombocytopenia; X-linked severe congenital neutropenia |
Severe congenital neutropenia; no eczema; normal platelet count; normal mean platelet volume (MPV); increased activated CD8+ T cells; decreased CD4+/CD8+ ratio; recurrent major bacterial infections; Monocytopenia |
Congenital defects of Phagocyte number, function or both |
X-linked recessive |
| Wiskott-Aldrich syndrome; X-linked thrombocytopenia; X-linked severe congenital neutropenia |
Sinusitis; Otitis media; epistaxis; oral bleeding; recurrent upper respiratory tract infections; recurrent lower respiratory tract infections; pneumonia; diarrhea; hematemesis; melena; inflammatory bowel disease; eczema; petechiae; purpura; meningitis; thrombocytopenia; decreased mean platelet volume; hemolytic anemia; small and large vessel vasculitis; iron deficiency anemia; reduced lymphocyte surface expression of CD43 (sialophorin); moderately depressed antibody response to polysaccharide antigens; lymphopenia; abnormal delayed hypersensitivity skin test; absent microvilli on the surface of peripheral blood lymphocytes; prolonged bleeding time; normal IgG levels; increased IgA levels; increased IgE level; reduced IgM levels; elevated erythrocyte sedimentation rate; elevated C-reactive Protein |
Other Well-defined Immunodeficiency Syndromes |
X-linked recessive |
| Wiskott-Aldrich syndrome; X-linked thrombocytopenia; X-linked severe congenital neutropenia |
Epistaxis; hemarthroses; transient eczema; petechiae; ecchymoses; hematoma; decreased mean platelet volume; congenital thrombocytopenia; intermittent thrombocytopenia; increased IgE level; increased IgA levels |
Other Well-defined Immunodeficiency Syndromes |
X-linked recessive |