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
CGD inheritance
x-linked
CGD clinical features
- recurrent infections
- chronic inflammation leading to restrictive lung disease + gastric outlet obstructive + granulomatous colitis
CGD treatment
- transplant
- interferon gamma
Chediak-higashi clinical manifestations
- albinism
- recurrent bacterial infections
- neuropathies
- terminal event is HLH
Gene mutation in autosomal recessive form of SCN (Kostmann syndrome)
- HAX1
CHIC2 FISH significance
detects FIPL1/PDGFRA gene fusion
*fusion driven lymphoid/myeloid that can be treated with imatinib
HLH on smear
*see photo
Risk of graft failure is highly predicated on what?
of stem cells in graft
(so bone marrow grafts are lower risk of failure)
Age as GVHD risk failure
Older age higher risk
