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Table 1 List of only those PIDs where screening diagnosis can be made by specific protein detection by flow cytometry

From: Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies

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
  1. * 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).