leukocytes Flashcards
Patients present in early in life with deep-seated pyogenic infections, especially involving the skin and lungs with risk for MDS/AML. Pierpheal smear: no specific granules and bilobed nuclei
Dx: specific granule def, AR due to defect in CEBPE
generally asymptomatic disease but can have disseminated candida, especially if you have diabetes
MPO deficiency
Neutropenia + big liver, growth retardation, dysfunctional nutrophils
glycogen storage disease Ib (G6PT1) AR
neutropenia + heart defects+ urogenital anomalies + venous angiectasia
G6PC3 deficeicny
episodic neutropenia, cardiomyopathy, methyglutaconic acuduria, pancytopenia
Taz1 X linked– Barth Syndrome
Vacuolization of erythroid and myeloid precursors, ringed sideroblasts, pancytopenia
Pearson syndrome- mitochondrial
severe neutropenia with arrest in maturation oat promyelocyte stage. regular oscillations in ANC where you get ANC dips and monocyte compensates.
ELANE severe congenital is most common, also HAX1 (postman) (different than ELANE severe congenital)
clinical picture for ELANE related neutropenia
atients present in the 1st year of life with recurrent fevers, malaise, apthous
ulcers and occasionally serious bacterial infections (esp. Clostridium septicum).
* Formal diagnosis requires CBCPDs 2-3 times/week for 6-8 weeks to document
which ELANE neutropenia syndrome does not have AML risk
cyclic
Neutropenia + pancreatic exocrine function, may also have skeletal issues
schwachman diamond syndrome- risk of bone marrow failure
gene= schwachen diamond syndrome
SBDS
Syndrome:
Monocytopenia, neutropenia, B/NK cell lymphopenia
* Viral infections (especially EBV, HSV and HPV), fungal infections (especially invasive
Aspergillosis) and/or Mycobacterial infections
* Bone marrow failure
* Myeloid malignancy
* Pulmonary alveolar proteinosis or lymphedema
GATA 2
WHIM syndrome
rare, autosomal dominant. CXCR4 cytokine- ABRNOAML APOPTOSIS AND RETETION OF NEUTROHILS IN BONE MARROW. WHIM stands for warts, hypo gamma globulinemia, infections, myeljkathexis
macrothrombocytopenia, hearing loss, kidney issues
MYH9- may haggling anomaly
LBR gene variant with bi lobed nuclei
pelger huet
problem in LAD 1
can’t express integrins including CD18 so cant adhere to walls. Older patients- colitis and HPV infections
problem in LAD 2
INADEQUATE fucosylation of macromolecules like selections.
which type of LAD has neurologic defects, craniofacial anomalies,
and the rare Bombay erythrocyte phenotype.
2
LAD 3 problem
can’t activate integrins- also impairs platelets so you can see bleeding
most common form of CGD AND INHERITANCE
gp91phox and thi sis the only X linked, CYBB mutation
immunodeficiency with neutrophils, NK cells, T cells, partial oculocutaneous albinism, bleeding, and progressive neuro deterioration
chediak higashi
what’s ht problem in chediak higashi
defect in the formation and trafficking of granules in
neutrophils and other cells, e.g. platelets, melanin-containing cells.
* Giant, coalesced granules in neutrophils (diagnostic of CHS)
* Decreased dense granules in platelet resulting in bleeding diathesis
* “Clumped” melanosomes causing partial albinism
risk to patients with chediak higashi
HS patients are susceptible to infection and are at risk
for developing an “accelerated phase” of disease
consistent with hemophagocytic lymphohistiocytosis.
mutations in hyper IgE syndrome
STAT3, DOCK8 OR TYK2
Sinopulmonary infections (esp. Staph), fungal infections of nails and mucosa, severe
eczema
* Abnormal teeth (retained teeth), coarse facies, osteopenia with increased fractures,
connective tissue disease
* Very elevated IgE levels
HYPER IGE
DEFECT IN GAUCHERS TYPE 1
missing lysosomal enzyme- glucocerebrosidase deficiency
