Immunodeficiencies

Question 1

B-cell disorders?

Answer 1

Bruton’s, IgA deficiency, common variable immunodeficiency (CVID)

Question 2

T-cell disorders?

Answer 2

DiGeorge syndrome, IL-12 receptor deficiency, hyper-IgE (Job’s syndrome), chronic mucocutaneous candidiasis

Question 3

B and T-cell disorders?

Answer 3

SCID, ataxia telangiectasia, hyper-IgM, Wiskott-Aldrich

Question 4

Phagocyte disorders?

Answer 4

Leukocyte adhesion deficiency (type 1), Chediak-Higashi, chronic granulomatous disease

Question 5

Defect in BTK (a tyrosine kinase gene)?

Answer 5

Bruton’s

Question 6

No B-cell maturation but normal pro-B cells?

Answer 6

Bruton’s

Question 7

S/S of Bruton’s?

Answer 7

Recurrent bacterial infections after 6 months (low maternal IgG) as a result of opsonization defect

Question 8

Deficient in Bruton’s?

Answer 8

Low B-cells, low Igs of all types

Question 9

Most common primary immunodeficiency?

Answer 9

IgA deficiency

Question 10

False positive test seen in IgA deficiency?

Answer 10

B-hCG–due to presence of heterophile Ab

Question 11

Sinupulmonary infection, GI infection?

Answer 11

IgA deficiency?

Question 12

Anaphylaxis after blood transufsion?

Answer 12

IgA deficiency–with blood products containing IgA

Question 13

Normal number of B-cells but low plasma cells and Igs?

Answer 13

CVID

Question 14

S/S of CVID?

Answer 14

Acquired in 20s-30s, increased risk for autoimmune dz, lymphoma, sinupulmonary infections

Question 15

22q11 deletion syndrome?

Answer 15

DiGeorge

Question 16

Which branchial pouches do not develop in DiGeorge?

Answer 16

3rd and 4th

Question 17

Labs seen in DiGeorge?

Answer 17

Low T-cells, low PTH, hypocalcemia, absent thymic shadow on CXR

Question 18

S/S of DiGeorge?

Answer 18

Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects

Question 19

What has a diminished Th1 response?

Answer 19

IL-12 receptor deficiency

Question 20

S/S of IL-12R deficiency?

Answer 20

Disseminated mycobacterial infections

Question 21

Labs in IL-12R deficiency?

Answer 21

Low IFN-g

Question 22

Most common cause of SCID?

Answer 22

Defective IL-2 receptor (X-linked)

Question 23

Causes of SCID?

Answer 23

IL-2R defect, ADA deficiency

Question 24

S/S of SCID?

Answer 24

Recurrent infections of ALL types, absence of thymic shadow, germinal centers, and B-cells (peripheral blood smear)

Question 25

How do you tx SCID?

Answer 25

Bone marrow transplant (no allograft rejection)

Question 26

What are the lab findings for SCID?

Answer 26

Low T-cell recombinant excision circles (TRECs), absence of T-cells (flow cytometry)

Question 27

What is the defect in ataxia telangiectasia?

Answer 27

ATM gene--codes for DNA repair EZs

Question 28

What is the triad of sxs in ataxia telangiectasia?

Answer 28

Cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency

Question 29

What are the labs in ataxia telangiectasia?

Answer 29

High a-fetoprotein

Question 30

CD40L defect on Th cells?

Answer 30

Hyper-IgM--inability to class switch

Question 31

S/S of hyper IgM?

Answer 31

Severe pyogenic infections early in life

Question 32

Defect in Wiskott Aldrich?

Answer 32

WAS gene on X Chr--leading to T-cells unable to reorganize actin cytoskeleton

Question 33

What is the triad of sxs in Wiskott Aldrich?

Answer 33

TTP, Infections, Eczema (TIE)

Question 34

What are the labs in Wiskott Aldrich?

Answer 34

High IgE, IgA; low IgM; thrombocytopenia

Question 35

Defect in LFA-1 integrin (CD18) protein?

Answer 35

Leukocyte adhesion deficiency

Question 36

S/S of leukocyte adhesion deficiency?

Answer 36

Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord

Question 37

Defect in lysosomal trafficking regulator gene (LYST)?

Answer 37

Chediak Higashi--microtubule dysfunction in phagolysosome fusion

Question 38

S/S of Chediak Higashi?

Answer 38

Recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy

Question 39

Giant granules in neutrophils?

Answer 39

Chediak Higashi

Question 40

Lack of NADPH oxidase?

Answer 40

CGD--low ROIs and absent respiratory burst in neutrophils

Question 41

S/S of CGD?

Answer 41

Increased susceptibility to catalase positive organisms (staph, E. coli, Aspergillus)

Question 42

Dx for CGD?

Answer 42

Negative nitroblue tetrazolium dye reduction test, abnormal dihydrorhodamine (DHR) flow cytometry test

Question 43

Tx for CGD?

Answer 43

IFN-g

Question 44

Defect in Jobs syndrome?

Answer 44

Th1 cells fail to produce IFN-g causing inability of neutrophils to respond to chemotactic stimuli

Question 45

S/S of Job's syndrome?

Answer 45

Coarse Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema) (FATED)

Question 46

Candida infections of skin and mucous membranes?

Answer 46

Chronic mucocutaneous candidiasis