Table VII. Differential diagnosis of phagocyte defects and associated laboratory findings.
| Chronic granulomatous disease: defective oxidative burst by means of DHR assay or NBT |
| Leukocyte adhesion defects |
| LAD1: low/absent CD18 and CD11 expression by means of flow cytometry; persistent leukocytosis |
| LAD2: Bombay phenotype; absent CD15 (Sialyl-Lewis X) expression |
| LAD3: mutation analysis only |
| Chediak-Higashi syndrome: giant lysosomal inclusion bodies observed on morphologic review of granulocytes (with partial albinism) |
| Griscelli syndrome type 2: neutropenia without inclusion bodies (with partial albinism) |
| Severe congenital neutropenia: persistent neutropenia; maturation arrest on bone marrow studies |
| Cyclic neutropenia: intermittent neutropenia requiring serial measurements |
| X-linked neutropenia: altered WASP expression by means of flow or mutation analysis |
| G6PD and MPO deficiency: abnormal functional enzymatic assay |
| Hyper-IgE syndrome: IgE level >2,000 IU/mL; low TH17 cell numbers |
| Other disorders to be considered |
| Drug-induced neutropenia; autoimmune/alloimmune neutropenia; hypersplenism; chronic mucocutaneous candidiasis; TCII deficiency; hyper-IgM syndrome, XLA; Schwachman-Bodian-Diamond syndrome; warts, hypogammaglobulinemia, immunodeficiency and myelokathexis (WHIM) syndrome |
NBT, Nitroblue tetrazolium; WASP, Wiskott-Aldrich syndrome protein; G6PD, glucose-6-phosphate dehydrogenase; MPO, myeloperoxidase; XLA, X-linked agammaglobulinemia.