Immunodeficiencies

Question 1

Primary immunodeficiency

Answer 1

congenital

Question 2

Secondary immunodeficiency

Answer 2

acquired

Question 3

What is X-linked agammaglobulinemia caused by

Answer 3

absence of mature B cells caused by mutation/deletions in B cell tyrosine kinase

Question 4

What does an X-linked agammabloulinemia patient present as

Answer 4

male child ~3 years of age (has to be at least 6 months) with recurrent infections by pyogenic bacteria such as pneumonia, otitis media, meningitis, etc

Question 5

Can you give X-linked agammabloulinemia patient’s vaccines?

Answer 5

no

Question 6

X-linked agammaglobulinemia has absence of _____ B lymphocytes

Answer 6

circulating

Question 7

What happens with B cells in common variable immunodeficiency

Answer 7

they can’t differentiate into plasma cells which decreases the amount of antibodies

Question 8

What does a patient with variable immunodeficiency present as

Answer 8

male or female
increased susceptibility of recurrent bacterial infections
high incidence of autoimmune diseases

Question 9

How do you treat variable immunodeficiency

Answer 9

monthly gamma globulin shots and antibiotic therapy

Question 10

Selective IgA deficiency

Answer 10

very common in white people
asymptomatic, but some may have increased infections of mucosal sites
may have increased allergy, GI tract disease and/or autoimmune disease

Question 11

Why does selective IgA defiency lack symptoms?

Answer 11

IgM compensates

Question 12

Treatment for selective IgA deficiency

Answer 12

antibiotics (if needed)
no gamma globulin
absolutely CANNOT give them anything with IgA in it

Question 13

X-linked hyper igM syndrome

Answer 13

inherited deficiency of CD40L on T cells, prevents isotype switching

Question 14

Hyper IgM 2 syndrome

Answer 14

inherited mutation in the gene activation induced cytidine deaminase, prevents isotype switching

Question 15

DiGeorge syndrome caused by

Answer 15

defective maturation of T cells, deficiency of T cells due to hypoplasia or agenesis of the thymus

Question 16

What do patient’s with DiGeorge syndrome look like?

Answer 16

low set ears
fish mouth
lack of thymus

Question 17

SCID can be caused by

Answer 17

most commonly due to deficiency of adenosine deaminase (ADA)
RAG1/RAG2 deficiency
X-linked, mutation in gene for common gamma chain

Question 18

SCID patients have little or no _____ immunity

Answer 18

humoral or cell-mediated

Question 19

How to treat SCID

Answer 19

bone marrow transplant

Question 20

Chronic granulomatous disease caused by

Answer 20

defect in NADPH oxidase which prevents neutrophils from producing superoxide anion during respiratory burst

Question 21

How to treat chronic granulomatous disease

Answer 21

bone marrow transplant
gene therapy
interferon-gamma therapy

Question 22

Myeloperoxidase deficiency caused by

Answer 22

decreased or absent myeloperoxidase

Question 23

Myeloperoxidase deficiency have increased susceptibility to what

Answer 23

infection and fungal infection (particularly candida yeast)

Question 24

Chediak Higashi Syndrome caused by

Answer 24

neutrophils with large cytoplasmic granules due to fusing of lysosomes. this reduces ability to kill microbes
T cell and NK cell function impaired

Question 25

What does a Chediak higashi syndrome patient present with

Answer 25

``` metallic silver hair vision impairment bleeding tendencies CNS problems hepatosplenomegaly lymphoreticular cancers ```

Question 26

Treatment for chediak higashi syndrome

Answer 26

bone marrow transplant

Question 27

Leukocyte adhesion deficiency is caused by

Answer 27

defect in beta chain of LFA-1 and Mac-1 adhesion molecules preventing neutrophils from adhering to endothelial cells during extravasation

Question 28

What does a leukocyte adhesion deficiency patient present with

Answer 28

recurrent bacterial and fungal infections of skin, lungs, blood wound healing problems

Question 29

How to treat leukocyte adhesion deficiency

Answer 29

aggressive antibiotic treatment granulocyte transfusion bone marrow transplant

Question 30

Triad of symptoms in wiskott-aldrich syndrome

Answer 30

immunodeficiency, eczema, thrombocytopenia

Question 31

Genetic basis of wiskott-aldrich syndrome

Answer 31

defective cytosolic protein | means immune system cells can't traffic to sites of inflammatino and B and T cells can't interact properly

Question 32

How to treat wiskott-aldrich syndrome

Answer 32

IV gamma globulin and antibiotics | bone marrow transplant

Question 33

What does patient with wiskott-aldrich syndrome present with

Answer 33

near normal numbers of T and B cells that respond poorly to antigen recurrent infections with pnuemococci, menigngococci, and hemophilus influenzae begin at 6 months predisposition to develop severe autoimmune disease male