X linked chronic granulomatous disease (1986) | Xp21 | gp91phox | Component of phagocytic NADPH oxidase-phagocytic respiratory burst | Nitroblue tetrazolium test gp91phox by immunoblotting |
| | | | Mutation analysis |
X linked agammaglobulinaemia (1993) | Xq22 | Bruton's tyrosine kinase (Btk) | Intracellular signalling pathways essential for pre-B cell maturation | Btk by immunoblotting or FACS analysis |
| | | | Mutation analysis |
X linked severe combined immunodeficiency (1993) | Xq13 | Common γ chain (γc) | Component of IL-2, 4, 7, 9, 15 cytokine receptors; T and NK cell development, T and B cell function | CD154 expression on activated T cells by FACS analysis |
| | | | Mutation analysis |
X linked hyper-IgM syndrome (CD40 ligand deficiency) (1993) | Xq26 | CD40 ligand (CD154) | Isotype switching, T cell function | CD145 expression on activated T cells by FACS analysis |
| | | | Mutation analysis |
Wiskott-Aldrich syndrome (1994) | Xp11 | WASP | Cytoskeletal architecture formation; immune cell motility and trafficking | WASP expression by immunoblotting |
| | | | Mutation analysis |
X linked lymphoproliferative (Duncan's) syndrome (1998) | Xq25 | SAP | Regulation of T cell responses to EBV and ? other viral infections | Mutation analysis |
| | | | ?SAP expression—under development |
Properdin deficiency (1992) | Xp21 | Properdin | Terminal complement component | Properdin levels |