High Yield Topics-Immunology

Question 1

What gene is defective in x-linked (Bruton) agammaglobulinemia?

Answer 1

BTK gene

• STUDY AID: “Bruton” Tyrosine Kinase

Question 2

BTK gene defect in x-linked (Bruton) agammaglobulinemia causes failure of ____ cells to mature

Answer 2

B

Question 3

What gene is defective in Ataxia-Telangiectasia?

Answer 3

ATM gene

*STUDY AID: Withdraw money from “ATM” to get “a TAXIa”

Question 4

ATM gene defect in Ataxia-Telangiectasia causes accumulation of

Answer 4

mutations due to failure to detect DNA damage

Question 5

Triad presentations of Ataxia-Telangiectasia

Answer 5

1. Ataxia
2. Telangiectasia
3. IgA, IgG, IgE deficiency

Question 6

Describe STUDY AID for Wiskott-Aldrich Syndrome

Answer 6

Wiskott-Al”DRINK” Syndrome

W: WAS gene mutation
A: Antigen-presenting defect
T: Thrombocytopenia
E: Eczema
R: Recurrent infections

Question 7

Describe STUDY AID for Chediak-Higashi Syndrome

Answer 7

“Sir Chediak-Higashi recives a LYST of demands”

L: Lymphohistiocytosis
M: Microtubule dysfunction
N: Neurologic symptoms (neuropathy)
O: PhagOlysosome formation defect 
P: Pancytopenia

Question 8

What gene is defective in Chediak-Higashi Syndrome?

Answer 8

LYST gene

Question 9

What skin findings can be seen in Chediak-Higashi Syndrome?

Answer 9

Albinism

Question 10

What unique histological finding can be seen in Chediak-Higashi Syndrome?

Answer 10

Giant granules in granulocytes and platelets

Question 11

Describe STUDY AID for Leukocyte Adhesion Deficiency

Answer 11

L: Late separation of umbilical cord
A: Absent pus
D: Dysfunctional neutrophils

Question 12

What protein is defective on neutrophils/phagocytes in Leukocyte Adhesion Deficiency?

Answer 12

CD 18

(LFA-1) integrin

Question 13

X-linked recessive type (most common) of SCID is caused by defective

Answer 13

IL-2R gamma chain

Question 14

Autosomal recessive type of SCID is caused by deficiency of

Answer 14

adenosine deaminase

• adenosine accumulation is toxic to lymphocytes

Question 15

Least common type of SCID is caused by mutation in

Answer 15

RAG gene –> VDJ recombination defect

Question 16

Clinical presentations of Hyper IgE (Job) Syndrome

Answer 16

A: Abscesses
B: Baby teeth
C: Coarse facies
D: Dermatologic issues (eczema)
E: increased IgE
F: Fracture with minor trauma

• STUDY AID: learn ABCDEF’s to get a JOB

Question 17

What immunodeficiencies have “x-linked recessive” inheritance pattern?

Answer 17

• “B”ruton agammaglobulinemia
• Hyper Ig”M” syndrome
• “W”iskott-Aldrich syndrome
• “C”GD

*STUDY AID: “BMW” is a good “C”ar