16. Immunodeficiency

Question 1

What is the difference btwn primary (congential) and secondary (acquired) immunodeficiencies

Question 2

Toxoplasma immunoperoxidase

Answer 2

Complication of HIV

Question 3

Immunodeficinecies can lead to what 3 things.

Specifically, B cell diseases cause what?

And T cell cause what?
Innate cause what?

Answer 3

autoimmune diseases, malignancy, infections, systemic signs and symptoms.
B cell cause pyogenic (pus producing) bacterial infections, especially of encapsulated bacteria. also get enteric and viral infections. and T cells cause viral infections and other intracellular. also opportunisitc infections.
Innate cause variable but often pyogenic and viral

Question 4

Explain SCID mechanism: x linked and autosomal

and signs and symptoms,

labs to diagnose
how is the maternal CD45 important?

why is humoral response affected?
why are NK cells affected? what IL?
treatment
what happens if untreated?

Question 5

Why is SCID screening recommended as part of newborn screening?:

Answer 5

both of the following:
A.Diagnosis might otherwise be delayed because maternal antibodies provide some protection right after birth.
B.Early stem cell transplant reduces the risk of fatal infection.

baby usually diangosed 3-4 months after born

Question 6

X linked agammaglobinuremia:
mechanism
signs and symptoms
genetic?
Lab findings?
cell marker for B cell?
treament?

Question 7

Describe DiGeorge syndrome.
what makes this a unique immunodeficincy disease?
why do some survive, but some fatal?
what is the triad?
what deletion?

Question 8

Describe Ig Heavy Chain deletion?

Question 9

>70 people with CVID or other primary B-cell immunodeficiencies have been identified who fecally shed oral polio vaccine for at least one year, such that the virus mutates into a neurovirulent form. These people were primarily identified in what countries?

Answer 9

A.High and middle income countries.Why? Kid with scid in low income country would die. High income contry, tend to live much longer.

Question 10

What is CVID
clinical dx?
signs and symptoms
cause
age of dx
what category of congential is this?

Question 11

Describe X linked hyperM syndrome?
cause?

clinical manifestation?
treatment?

Question 12

Why does a mutation in the gene for CD40 ligand, which is expressed on CD4+ T cells, result in a deficiency of IgG?

Answer 12

A.CD40 ligand is needed for B cell activation

Question 13

What is bare lymphocyte syndrome?
what categoryis this?

Question 14

Hematopoietic cell transplantation seems to be the definitive treatment for most congenital immunodeficiencies. Why is it not recommended for all congenital immunodeficiencies?

Answer 14

A.HCT has a 30% mortality rate.

Question 15

what is chronic Gramulotous disease?
lab sign?
cause?
where on body are infections found?
characterized by formation of?

Question 16

Complement Deficiencies?
what category?
clinical dx?

Question 17

Leukocyte adhesion deficiency

Question 18

The Ryan White program is a federal program that provides HIV care free of charge to HIV-infected individuals under a certain income level in the United States. Who was Ryan White?

Answer 18

A.A hemophiliac who died of AIDS as a teenager in Indiana

Question 19

Has HIV ever been cured?

Answer 19

A.Once, through a stem cell transplant from a donor homozygous for a Δ32 CCR5 mutation

Question 20

What is the difference between a diagnosis of the acquired immune deficiency syndrome (AIDS) versus HIV?

Answer 20

A.AIDS is advanced HIV, as defined by a CD4 count <200 cells/mm3 or an AIDS-defining illness

Question 21

What is daily bactrim recommended for HIV patients with a CD4 count <200 cells/mm3?

Answer 21

A.It helps prevent PCP pneumonia (Pneumocytsis Jiroveci)

Question 22

wiskott aldrich

Question 23

ataxia telangectasia

Question 24

Describe pathogenesis of HIV:
cause
life cycle of virus
which cells are infected
importance of macrophage infection in progression of AIDS?
why are cd4 cells depleted?
**which steps do we have tx for? **

Question 25

Clinical features of HIV/AIDS:

Question 26

What laboratory test is used to assess whether antiretroviral therapy is working (and also if the patient is taking the prescribed antiretrovirals)?

Answer 26

A.HIV viral load

Question 27

In what type of patient is CMV pneumonia a concern?

Answer 27

A.Heart transplant patient

Question 28

What might make an infection in an immunodeficient individual harder to diagnose?

Answer 28

A.Unusual types of infections B.Less obvious symptoms C.Unusual location of infections D.All of the above

Question 29

what is the difference between CVID and Xlinked agammaglobunermia?

Answer 29

in the x linked you have less than 2 SD of your Igs AND less than 2% of CD19 (B cell) in the CVID, various casues and have less Igs. ALSO poor response to vaccines

Question 30

what are the AIDS defining illnessses?

Answer 30

[\*] Pneumocystic jiroveci pneumonia (PCP) \* [\*] Coccidiodomycosis [\*] Nonhodgkin’s lymphoma [\*] Progressive multifocal leukoencephalopathy (PML)

Question 31

side effects of HIV meds?

Answer 31

renal issues osteoporosis cardiovascualr increased suicide rate

Question 32

HIV infection alone increases what risks?

Answer 32

—Increased risk from HIV infection alone: ◦Malignancies ◦Cardiovascular disease ◦Renal diseases ◦Neurocognitive disorders

Question 33

2 most common cancers for AIDS patients

Answer 33

2. B cell lymphoma caused by epstein barr viurs 1. kaposi's sarcoma cuased by hepres virus