Diagnosis | Initial testing | Genetic testing* | Additional details |
Disorders of neutrophil number | |||
Severe congenital neutropenia (SCN) | CBC, BM evaluation | ELANE (mutation in approximately 60%), TCIRG1, G6PC3, GFI1, WAS, CSF3R, HAX1¶; 20 to 30% do not have a mutation identified | CBC shows isolated neutropenia BM shows promyelocytic (progranulocyte) arrest |
Cyclic neutropenia (CN) | Serial CBCs (eg, two times per week) | ELANE mutation in approximately 90% | CBC shows isolated neutropenia with a characteristic periodicity (eg, absolute neutrophil count <200/microL for two to four days). BM not helpful. |
MonoMAC | CBC, lymphocyte subsets | GATA2 mutation in approximately 80% | Varying neutropenia, severe monocytopenia, NK cell cytopenia, B cell lymphopenia |
Shwachman-Diamond syndrome (SDS) | CBC, tests of exocrine pancreatic function, BM evaluation | SBDS mutation in approximately 80% | CBC shows isolated neutropenia or pancytopenia BM shows decreased cellularity; laboratory tests show exocrine pancreatic dysfunction |
Disorders of neutrophil function | |||
Chediak-Higashi syndrome (CHS) | CBC, BM evaluation | LYST mutation in approximately 80% | Characteristic very large granules in leukocytes |
Leukocyte adhesion deficiency-I (LAD-I) | CBC, flow cytometry for deficiency of CD11b/CD18 | ITGB2 mutation in over 90% | Neutrophilic leukocytosis, omphalitis in newborn period |
Leukocyte adhesion deficiency-II (LAD-II) | CBC, flow cytometry for deficiency of CD15a/SLeX | GDP-fucose transporter | Dysmorphic, neuro development problems |
Chronic granulomatous disease (CGD) | Flow cytometry using dihydrorhodamine (DHR) fluorescence; NBT slide test | CYBB, NCF1, CYBA, or NCF2 mutation in most cases | |
Neutrophil specific granule deficiency | CBC | C/EBP-epsilon | Bilobed neutrophils (pseudo Pelger-Huet anomaly) that lack granules |
Hyperimmunoglobulin E (IgE) syndrome (Job syndrome) | CBC, IgE levels, Th-17 cell count | STAT3 |
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