Immunodeficiency d/o's

Question 1

Mutation in what enzyme is responsible for B cell depletion in Bruton’s agammaglobulinemia

Answer 1

Tyrosine kinase

Question 2

Tx for Bruton’s agammaglobulinemia

Answer 2

pooled gamma globulin

Question 3

B-cells (antibody-producing) target what organisms?

Answer 3

Bacteria

Question 4

T-cells target what organisms?

Answer 4

Viruses
Protozoa
M. tuberculosis

Question 5

Phagocytes target what organism?

Answer 5

Fungi

Question 6

X-linked agammaglobulinemia is assoc w/ recurrent infx of enteroviruses, w/c are the ff:

Answer 6

Polio
Coxsackie
Echovirus

Question 7

At what age does X-linked agammaglobulinemia usually manifest?

Answer 7

6 mos. of life

when maternal IgG wanes off

Question 8

MOA of selective IgA deficiency

Answer 8

Failure of Isotyoe switching

Question 9

S/Sx of selective IgA immunodeficiency

Answer 9

Recurrent infx of the resp system, GUT, and GIT

Question 10

Tx contraindicated for IgA immunodeficiency

Answer 10

Gamma globulin

Question 11

Most severe of B-cell d/o’s

Answer 11

Common Variable Immunodeficiency

Question 12

B-cell d/o’s

Answer 12

X-linked agammaglobulinemia
Selective IgA deficiency
Common variable immunodeficiency

Question 13

T-cell d/o’s

Answer 13

DiGeorge Syndrome

Chronic Mucocutaneous Candidiasis

Question 14

MOA of DiGeorge syndrome

Answer 14

Profound deficit of T cells d/t failure of thymus and parathyroid devt

Question 15

Pharyngeal pouches affected in DiGeorge syndrome

Answer 15

3rd and 4th pharyngeal pouch

Question 16

S/Sx of DiGeorge syndrome

Answer 16

Tetany d/t hypoCa

Severe viral, fungal or protozoal infx

Question 17

DiGeorge syndrome’s CATCH 22

Answer 17

Cardiac defect (TOF)
Abnormal facies
Thymic aplasia
Cleft palate
HypoCa
22q11.2 chromosomal deletion

Question 18

Combined B and T-cell d/o’s

Answer 18

Severe Combined Immunodeficiency (SCID)
Wiskott-Aldrich Syndrome
Ataxia-Telangiectasia

Question 19

MOA of X-linked SCID

Answer 19

defect in IL-2 receptors in T cells

Question 20

MOA of Autosomal SCID

Answer 20

ADA deficiency

Question 21

Tx for SCID

Answer 21

Plastic bubble

BM transplant

Question 22

Tx of DiGeorge Syndrome

Answer 22

Transplant of fetal thymus (

Question 23

MOA of Wiskott-Aldrich Syndrome

Answer 23

Inability to mount IgM response d/t mutation of WASP gene for actin filament assembly

Question 24

S/Sx of Wiskott-Aldrich syndrome

Answer 24

Thrombocytopenia
Infections (pyogenic)
Eczema
WASP mutation (ety.)
(How do you TIE a WASP?)

Question 25

Autosomal recessive w/ mutationa in DNA repair enzymes leading to IgA deficiency

Answer 25

Ataxia-telangiectasia

Question 26

Tx for ataxia-telangiectasia

Answer 26

Supportive (antibx)

Question 27

Tx for Wiskott-Aldrich Syndrome

Answer 27

BM transplant

Question 28

Age when ataxia-telangiectasia manifests

Answer 28

2 y/o

Question 29

Phagocyte d/o's

Answer 29

Chronic granulomatous dse Chediak-Higashi Syndrome Leukocyte Adhesion Deficiency

Question 30

Complement d/o's

Answer 30

Early complement deficiency (C2 and C3 def) | Terminal complement deficiency

Question 31

MOA of phagocyte d/o's

Answer 31

lack of NADPH oxidase activity (failure of oxidative burst)

Question 32

Manifests w/ chronic infx w/ catalase (+) bacteria and fungi

Answer 32

Chronic granulomatous dse

Question 33

Tx for chronic granulomatous dse

Answer 33

None (only antibx prophylaxis)

Question 34

MOA of Chediak-Higashi Syndrome

Answer 34

Failure of phagolysosomal fixation

Question 35

Autosomal recessive dse assoc w/ faulty microtubules that impair neutrophil chemotaxis

Answer 35

Chediak-Higashi syndrome

Question 36

Organisms that commonly affect pts w/ Chediak-Higashi syndrome

Answer 36

Staphylococcus | Streptococcus

Question 37

Autosomal recessive dse w/c has defective adhesion (LFA-1) proteins on the phagocyte surface

Answer 37

Leukocyte Adhesion Deficiency

Question 38

Mutation in LAD

Answer 38

Integrins

Question 39

Most common early complement deficiency

Answer 39

C2 deficiency

Question 40

MOA of terminal complement deficiency

Answer 40

inability to form MAC (deficiency in C5-9)

Question 41

Common infx among pts w/ terminal complement def

Answer 41

Neisseria

Question 42

Strains in quadrivalent meningococcal vaccine

Answer 42

A C Y W135

Question 43

Secondary immunodeficiencies

Answer 43

Malnutrition | AIDS

Question 44

Deficiencies in malnutrition

Answer 44

Dec AA | Dec synthesis of IgG and complement

Question 45

Tx for AIDS

Answer 45

HAART: Highly-active antiretroviral therapy

Question 46

B cell d/o w/ very low levels of all immunoglobulins

Answer 46

X-linked agammaglobulinemia