Table 1.
List of only those PIDs where screening diagnosis can be made by specific protein detection by flow cytometry
| PID | Disease-specific protein detected by flow* |
|---|---|
| X-linked agammaglobulinemia (XLA) | Bruton's tyrosine kinase (Btk) in monocytes, platelets |
| Wiskott-Aldrich syndrome (WAS) and related allelic variants, X-linked thrombocytopenia (XLT) and X-linked neutropenia/myelodysplasia | Wiskott-Aldrich Syndrome protein (WASP) |
| X-linked Hyper IgM syndrome (XL-HIGM) | CD40L (CD154) on activated T cells |
| Hyper IgM syndrome type 3 | CD40 on B cells and/or monocytes |
| CVID-associated defects | ICOS (activated T cells), CD19, BAFF-R, TACI |
| Familial Hemophagocytic Lymphohistiocytosis (fHLH) | Perforin in NK cells and CD8 T cells |
| X-linked lymphoproliferative disease (XLP) | SAP (SH2D1A) |
| X-linked inhibitor of apoptosis (XLP2) disease | XIAP (BIRC4) |
| Chronic Granulomatous disease (CGD) - Autosomal recessive | p47phox, p67phox, p22phox in neutrophils |
| Leukocyte Adhesion deficiency type 1 (LAD-1) | CD18, CD11a, CD11b on leukocytes |
| Leukocyte Adhesion deficiency type 2 (LAD-2) | CD15 (Sialyl-Lewis X) on neutrophils and monocytes |
| Interferon gamma receptor 1 deficiency | IFNγR1 |
| Interferon gamma receptor 2 deficiency | IFNγR2 |
| IL-12 and IL-23 receptor β1 deficiency | IL-12Rβ1 |
| STAT1 deficiency | pSTAT1 |
| STAT5B deficiency | pSTAT5 |
| Immunodeficiency, enteropathy, X-linked (IPEX) | FOXP3 on regulatory T cells (Tregs, CD4+CD25+FOXP3+) |
| Warts, Hypogammaglobulinemia, and myelokathexis (WHIM) | CXCR4 on T cells |
| Common gamma chain (cγ chain) | CD132 (IL-2RG, IL-4RG, IL-7RG, IL-9RG, IL-15RG) on activated T cells |
| Bare Lymphocyte Syndrome type I and II (BLS I and II) | MHC class I and II expression on monocytes, B cells and T cells (activated) respectively |
| CD25 deficiency (IPEX-like syndrome) | CD25 (IL2Rα) |
| Membrane cofactor protein (MCP) deficiency | CD46 |
| Membrane attack complex deficiency (MAC) | CD59 |
* Presence of protein as detected by flow cytometry does not rule out an underlying functional mutation, therefore, results have to be correlated with other laboratory and immunological parameters, including functional flow cytometry when applicable, clinical and family history and confirmed by genetic testing for final diagnosis. Details of these individual defects can be found in "Immunologic Disorders in Infants and Children, 5th Ed, Eds. R. Stiehm, H. Ochs and J. Winkelstein, 2005, Elsevier Saunders).