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 |