Immune Case Disorders Flashcards
CGD defect/abnormality
nadph oxidase component defective in oxidative burst…
genetic linkage
CGD clinical presentation
recurrent bacterial and fungal infections, usually catalase positive organisms like staph aureus and aspergillus
use flow cytometry and NBT test for testing
NBT test
test function of oxidative burst in neutrophils…good for CDG
congenital neutropenia defect
low numbers of neutrophils from birth
congenital neutropenia clinical presentation
recurrent bacterial infections usually in ear throat or skin
staph and strep
congenital neutropenia assays
genetic mutation testing and bone marrow evaluation
can also ask about when umbilical detached cause neutrophils in charge of that so likely it was late
Leukocyte adhesion deficiency defect
problems with adhesion to vasculature, chemotaxis, and migration
genetic issues possible
Leukocyte adhesion deficiency clinical presentation
recurrent bacterial infections with no pus and poor wound healing
Leukocyte adhesion deficiency assay/confirmation
for LAD1 genetic issue will not have CD11 or CD18 on leukocytes
integrin assay
antibiotic or virus induced neutropenia defect
varies can be marrow suppression, antibody against neutrophils, hypersplenism, drug toxicity, peripheral destruction
antibiotic or virus induced neutropenia clinical presentation
increased risk of bacterial and fungal infection
antibiotic or virus induced neutropenia assays/confirmation
usually resolves itself over time, but can do marrow eval and assays for neutrophil antibodies
cyclic neutropenia defect
subset of congenital neutropenia…have mutation in neutrophil Elastase gene (ELANE)
cyclic neutropenia clinical presentation
recurrent fevers, usually 21 day cycles, bacterial infections with +/- bacteria
cyclic neutropenia assays/determination
cycle documentation…gene testing