Neutrophil disorders Flashcards
Leukocyte adhesion deficiency 1 pathophys
- defective integrin receptor common beta chain of integrin
- results in inability to ingest and kill microbes opsonized by C3bi (so can’t phagocytose microbes)
LAD clinical features
- high WBC
- recurrent infections (mainly cutaneous abscesses, gingivitis)
- many die before age 2
LAD treatment
- transplant
Gene most commonly incomplicated for cyclic neutropenia
ELANE (also for severe congenital neutropenia)
Severe congenital neutropenia inheritence
autosomal dominant
Kostmann syndrome + mutation
- Autosomal recessive form of SCN
- HAX1
Cyclic neutropenia inheritance
autosomal dominant
Cyclic neutroepnia clinical features
- usually benign
- pts with severe infections may require G-CSF
Cyclic neutropenia sequelae
NOT associated with increased risk of AML
Felty syndrome clinical features
- longstanding RA w/ end organ RA manifestations
- splenomegaly
- considerable morbidity from bacterial infection
LGL clinical and lab features
Median age 60 + cytopenias (neutropenia +/- anemia (50%) or thrombocytopenia (20%) + splenomegaly (20-50%) + hepatomegaly (20%) + often underlying RA + lymphocyte count normal (25%) but more often mild chronic lymphocytosis + ***gradual decline in counts over time + b symptoms (25%)
Shared finding between Felty’s syndrome and LGL-associated neutropenia
HLADR4
Drugs associated with agranulocytosis
1) Anti-thyroid medications (carbamizole, methimiazole, thiouracil)
2) Antibiotics (cephalosporins, penicillins, sulfonamides, chloramphenicol)
3) anticonvulsants (carbamazapine, valproic acid)
Non-immune chronic neutropenia clinical features
normal marrow + no autoimmune disease + benign clinical course
CGD mechanism
Defect in NADPH oxidase leading to failure of respiratory burst
