Immune Case Disorders Flashcards

1
Q

CGD defect/abnormality

A

nadph oxidase component defective in oxidative burst…

genetic linkage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

NBT test

A

test function of oxidative burst in neutrophils…good for CDG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

congenital neutropenia defect

A

low numbers of neutrophils from birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

congenital neutropenia clinical presentation

A

recurrent bacterial infections usually in ear throat or skin

staph and strep

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Leukocyte adhesion deficiency defect

A

problems with adhesion to vasculature, chemotaxis, and migration

genetic issues possible

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Leukocyte adhesion deficiency clinical presentation

A

recurrent bacterial infections with no pus and poor wound healing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Leukocyte adhesion deficiency assay/confirmation

A

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

integrin assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

antibiotic or virus induced neutropenia defect

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

antibiotic or virus induced neutropenia clinical presentation

A

increased risk of bacterial and fungal infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

cyclic neutropenia defect

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

cyclic neutropenia clinical presentation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

cyclic neutropenia assays/determination

A

cycle documentation…gene testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
Q

Complete DGS treatment

A

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
Q

Epstein Barr Virus

A

common for mono

part of the herpes virus family

has dsDNA with capsid, enveloped

lives mainly in the lymphoid cells

27
Q

Where does the EBV viral genome live after infection?

A

the genome will persist in the B cells

28
Q

main EBV receptor in humans?

A

the cd21 receptor on B cells…it stimulates proliferation of B cells

29
Q

EBV clinical presentation

A

malaise, fever, headache, pharyngitis, cervicla lymphadenopathy, fatigue

palatal petechiae, cytopenias

30
Q

tests to confirm EBV

A

assay for heterophile antibodies or EBV specific antibodies

31
Q

heterophile antibodies

A

usually IgM antibodies against random organisms in EBV infection

32
Q

VCA IgM/IgG for EBV assay and timing of presentation

A

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
Q

EBNA in EBV assay and timing of presentation

A

epstein barr virus nuclear antigen, this shows up late so if assay picks this up it is unlikely they have active EBV infection

34
Q

Lymphoproliferative disorders in EBV..how?

A

latent infected B cells from EBV are oncogenically transformed and can lead to issues with proliferation of lymphocytes…lymphoma

35
Q

EBV effects on liver?

A

often leads to hepatitis

36
Q

EBV effects on spleen?

A

often leads to splenomegaly