Immune Case Disorders Flashcards

1
Q

CGD defect/abnormality

A

nadph oxidase component defective in oxidative burst…

genetic linkage

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2
Q

CGD clinical presentation

A

recurrent bacterial and fungal infections, usually catalase positive organisms like staph aureus and aspergillus

use flow cytometry and NBT test for testing

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3
Q

NBT test

A

test function of oxidative burst in neutrophils…good for CDG

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4
Q

congenital neutropenia defect

A

low numbers of neutrophils from birth

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5
Q

congenital neutropenia clinical presentation

A

recurrent bacterial infections usually in ear throat or skin

staph and strep

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6
Q

congenital neutropenia assays

A

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

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7
Q

Leukocyte adhesion deficiency defect

A

problems with adhesion to vasculature, chemotaxis, and migration

genetic issues possible

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8
Q

Leukocyte adhesion deficiency clinical presentation

A

recurrent bacterial infections with no pus and poor wound healing

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9
Q

Leukocyte adhesion deficiency assay/confirmation

A

for LAD1 genetic issue will not have CD11 or CD18 on leukocytes

integrin assay

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10
Q

antibiotic or virus induced neutropenia defect

A

varies can be marrow suppression, antibody against neutrophils, hypersplenism, drug toxicity, peripheral destruction

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11
Q

antibiotic or virus induced neutropenia clinical presentation

A

increased risk of bacterial and fungal infection

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12
Q

antibiotic or virus induced neutropenia assays/confirmation

A

usually resolves itself over time, but can do marrow eval and assays for neutrophil antibodies

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13
Q

cyclic neutropenia defect

A

subset of congenital neutropenia…have mutation in neutrophil Elastase gene (ELANE)

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14
Q

cyclic neutropenia clinical presentation

A

recurrent fevers, usually 21 day cycles, bacterial infections with +/- bacteria

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15
Q

cyclic neutropenia assays/determination

A

cycle documentation…gene testing

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16
Q

Chediak Higashi syndrome

A

rare autosomal recessive disease
recurrent bacterial infections plus oculocutaneous albinism and neurologic defects coagulation defects

leukocytes and platelets have giant cytoplasmic granules

17
Q

autoimmune neutropenias

A

due to antibodies against various cell types

18
Q

mitogen testing

A

tests the functionality of T cells

19
Q

possible issues with T cells?

A

low number or inadequate functions

20
Q

DiGeorges Sydrome clinical presentation

A

dus to thymus aplasia, but also have cleft lip or palate, truncuc arteriosus (low oxygen levels), low calcium levels due to no parathyroid, and most importantly T cell deficiency

21
Q

Digeorges syndrome defect

A

defective development of the pharyngeal pouch system leads to all the issues in lower face, neck and upper chest

22
Q

genetic deletion in DiGeorges

A

22q11.2 deletion….heterozygous

23
Q

Classic Triad of DiGeorges

A

conotruncal cardiac abnormalities, hypoplastic thymus, and hypocalcemia

24
Q

partial DIgeorges versus complete digeorges

A

terminology used to describe immune function in DiGeorges

partial means some Thymic activity and T cells present

Complete means no thymus and no T cells…life threatening

25
Complete DGS treatment
need either thymus or stem cell transplant (keep T cells in the transplant) may not give vaccines due to T cells not being able to fight attenuated virus
26
Epstein Barr Virus
common for mono part of the herpes virus family has dsDNA with capsid, enveloped lives mainly in the lymphoid cells
27
Where does the EBV viral genome live after infection?
the genome will persist in the B cells
28
main EBV receptor in humans?
the cd21 receptor on B cells...it stimulates proliferation of B cells
29
EBV clinical presentation
malaise, fever, headache, pharyngitis, cervicla lymphadenopathy, fatigue palatal petechiae, cytopenias
30
tests to confirm EBV
assay for heterophile antibodies or EBV specific antibodies
31
heterophile antibodies
usually IgM antibodies against random organisms in EBV infection
32
VCA IgM/IgG for EBV assay and timing of presentation
viral capsid antigen IgG or IgM targets the antibodies that are seeking to bind the EBV capsid...these are found early in infection of EBV
33
EBNA in EBV assay and timing of presentation
epstein barr virus nuclear antigen, this shows up late so if assay picks this up it is unlikely they have active EBV infection
34
Lymphoproliferative disorders in EBV..how?
latent infected B cells from EBV are oncogenically transformed and can lead to issues with proliferation of lymphocytes...lymphoma
35
EBV effects on liver?
often leads to hepatitis
36
EBV effects on spleen?
often leads to splenomegaly