Immune Case Disorders

Question 1

CGD defect/abnormality

Answer 1

nadph oxidase component defective in oxidative burst…

genetic linkage

Question 2

CGD clinical presentation

Answer 2

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

use flow cytometry and NBT test for testing

Question 3

NBT test

Answer 3

test function of oxidative burst in neutrophils…good for CDG

Question 4

congenital neutropenia defect

Answer 4

low numbers of neutrophils from birth

Question 5

congenital neutropenia clinical presentation

Answer 5

recurrent bacterial infections usually in ear throat or skin

staph and strep

Question 6

congenital neutropenia assays

Answer 6

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

Question 7

Leukocyte adhesion deficiency defect

Answer 7

problems with adhesion to vasculature, chemotaxis, and migration

genetic issues possible

Question 8

Leukocyte adhesion deficiency clinical presentation

Answer 8

recurrent bacterial infections with no pus and poor wound healing

Question 9

Leukocyte adhesion deficiency assay/confirmation

Answer 9

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

integrin assay

Question 10

antibiotic or virus induced neutropenia defect

Answer 10

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

Question 11

antibiotic or virus induced neutropenia clinical presentation

Answer 11

increased risk of bacterial and fungal infection

Question 12

antibiotic or virus induced neutropenia assays/confirmation

Answer 12

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

Question 13

cyclic neutropenia defect

Answer 13

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

Question 14

cyclic neutropenia clinical presentation

Answer 14

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

Question 15

cyclic neutropenia assays/determination

Answer 15

cycle documentation…gene testing

Question 16

Chediak Higashi syndrome

Answer 16

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

leukocytes and platelets have giant cytoplasmic granules

Question 17

autoimmune neutropenias

Answer 17

due to antibodies against various cell types

Question 18

mitogen testing

Answer 18

tests the functionality of T cells

Question 19

possible issues with T cells?

Answer 19

low number or inadequate functions

Question 20

DiGeorges Sydrome clinical presentation

Answer 20

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

Question 21

Digeorges syndrome defect

Answer 21

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

Question 22

genetic deletion in DiGeorges

Answer 22

22q11.2 deletion….heterozygous

Question 23

Classic Triad of DiGeorges

Answer 23

conotruncal cardiac abnormalities, hypoplastic thymus, and hypocalcemia

Question 24

partial DIgeorges versus complete digeorges

Answer 24

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

Question 25

Complete DGS treatment

Answer 25

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

Question 26

Epstein Barr Virus

Answer 26

common for mono

part of the herpes virus family

has dsDNA with capsid, enveloped

lives mainly in the lymphoid cells

Question 27

Where does the EBV viral genome live after infection?

Answer 27

the genome will persist in the B cells

Question 28

main EBV receptor in humans?

Answer 28

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

Question 29

EBV clinical presentation

Answer 29

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

palatal petechiae, cytopenias

Question 30

tests to confirm EBV

Answer 30

assay for heterophile antibodies or EBV specific antibodies

Question 31

heterophile antibodies

Answer 31

usually IgM antibodies against random organisms in EBV infection

Question 32

VCA IgM/IgG for EBV assay and timing of presentation

Answer 32

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

Question 33

EBNA in EBV assay and timing of presentation

Answer 33

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

Question 34

Lymphoproliferative disorders in EBV..how?

Answer 34

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

Question 35

EBV effects on liver?

Answer 35

often leads to hepatitis

Question 36

EBV effects on spleen?

Answer 36

often leads to splenomegaly