Condition
|
Genetics
|
Affected Cells
|
Morphology & Testing
|
Effects
|
Pelger-Huet
|
Autosomal dominant
|
Neutrophils
All WBCs may be affected
|
Heterozygous
- Bi-lobed, mature neutrophils
Homozygous
- Round-to-oval nucleus without segmentation
All lineages are affected!
|
Asymptomatic
|
Alder-Reilly
|
Autosomal recessive
|
Neutrophils, lymphs, and monos
|
- Neutrophilia with left shift
- Dohle bodies
- Toxic granulation in neuts
- Large granules in lymphs and monos
|
Asymptomatic
|
May-Heggalin
|
Autosomal dominant
|
Granulocytes and monocytes only
|
- Leukopenia with large basophilic inclusions in all granulocytes and monocytes
- Variable thrombocytopenia
- Giant platelets
|
Asymptomatic or mild bleeding disorders from thrombocytopenia
|
Chediak-Higashi
|
Autosomal recessive
|
All WBCs
|
- Giant granules in all WBC types
|
Abnormal granule fusion causing large, mostly dysfunctional granules
- Ineffective phagocytosis and bacterial destruction
- Immunodeficiency
- Bleeding issues (due to platelets)
- Possible albinismUsually fatal
|
Chronic Granulomatous Disease
|
X-linked or autosomal recessive
|
Neutrophils
|
Normal morphology or neutrophilia
- Possible toxic changes due to bacterial infections
Testing
- Nitroblue tetrazolium reduction test (unable to reduce substance from yellow -> blue)
- Flow cytometry (probes for NADPH oxidase)
- Genetic testing
- Presence of granulomas in tissue
|
Inability to produce NADPH oxidase (reactive oxygen species)
- can ingest, but not kill bacteria
- recurring infections and formation of granulomas from trapped bacteria
- rupture of granulomas can release bacteria and pus
|
Lymphocyte & Monocyte Disorders
Condition
|
Genetics
|
Affected Cells
|
Morphology & Testing
|
Effects
|
Gaucher Disease
|
|
Monocytes and macrophages
|
- Gaucher cells in BM
- Anemia
- Thrombocytopenia
|
Asymptomatic to profound neurological and cytoskeletal issues
- Lipid storage disease
- Defect in glycolipid metabolism
- Unmetabolized lipids accumulate in macrophages
|
Niemann-Pick Disease
|
|
Monocytes and macrophages
|
- Niemann-Pick cells in BM
- Foamy cytoplasm
- Lipid-filled lysosomes (appear as vacuoles on stained BM)
|
Variety of effects and onset by type (A, B, or C)
- Lipid storage disease
- Defect in lipid metabolism and transport
- Lipids accumulate in macrophages
|