Immune Disorders High Yield

Question 1

“recurrent bacterial and enteroviral infections after the age of 6 mo”

Answer 1

X lined agammaglobulinemia

Question 2

What is the mutation in x lined agammagloblinemia?

Answer 2

Defect in BTK–> tyrosine kinase gene

No B cell maturation

Question 3

What is the most common primary immuno deficency?

Answer 3

Selective IgA deficiency

Question 4

“increased airway and GI infections and atopy and autoimmune diseae”

Answer 4

Selective IgA deficienct

Question 5

“defect in B cell differentiation”

Answer 5

Common variable immunodeficiency

Question 6

What is the deletion of DiGeorge syndrome?

Answer 6

22q11 deletion

Question 7

“tetany, recurrent viral and fungal infections, conotruncal abnormalitie”

Answer 7

Digeorge

Tetany is due to hypocalcemia

Question 8

Inheritance pattern of IL-12 receptor deficiency?

Answer 8

AR

Question 9

IL-12 receptor deficiency leads to a decrease in what type of response?

Answer 9

Th1

Question 10

“deficiency of Th17 cells due to STAT3 mutation leading to impaired recruitment of neutrophils to sites of infection”

Answer 10

AR hyper IgE syndrome

Question 11

“recurrent viral, bacterial, fungal, and protozoal infections with absence of thymic shadows, germinal centers and T cells”

Answer 11

SCID

Question 12

What condition is caused by a defect in ATM gene?

Answer 12

Ataxia- telangiectasia

Question 13

What does ATM gene do?

Answer 13

DNA double strand break repair

Question 14

“cerebellar defects, spider angiomas, IgA deficiency”

Answer 14

Ataxia- telangiectasia

Question 15

What causes hyper-IgM syndrome?

Answer 15

defective CD40L on Th cells leading to a class weitching defect

Question 16

What is the inheritance of HyperIgM syndrome?

Answer 16

X linked recessive

Question 17

“T cell inability to reorganize actin cytoskeleton–> WAS gene mutation”

Answer 17

Wiskott Aldrich Syndrome

Question 18

What are the 3 main symptoms of Wiskott Aldrich syndrome

Answer 18

Thrombocytopenia
Eczema–> increased IgE
Recurrent infections–> decreased IgG and IgM

Question 19

“recurrent bacterial skin infectionsand mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord”

Answer 19

Leukocyte adhesion deficiency

Question 20

What is the defect in eukocyte adhesion deficiency?

Answer 20

AR defect in LFA-1 integrin protein on phagocytes–> impaired migration and chemotaxis

Question 21

“defect in lysosomal trafficking regulator gene”

Answer 21

Chediak Higashi Syndrome

Question 22

“microtuble dysfunction in phagosome lysosomal fusion”

Answer 22

Chediak Higashi Syndrome

Question 23

“defect of NADPH oxidase leading to a decrease in ROS and a decrease in respiratory burst in neutrophils”

Answer 23

Chronic granulomatous disease

Question 24

What organisms are problematc in chronic granulomatous disease?

Answer 24

Catalase +

Question 25

Name some catalase (+) organisms?

Need PLACESS

Answer 25

Nocardia

Pseudomonas
Listeria
Aspergillus
Candida
E. coli
S. aureus
Serratia

Question 26

What is the lab test for Chronic granulomatous disease?

Answer 26

(-) nitroblue tetrazolium dye

Question 27

What is the lab test for Chronic granulomatous disease?

Answer 27

(-) nitroblue tetrazolium dye

Question 28

If a person is deficient in B cells, what are they most succeptible to?

Answer 28

Encapsulated bacteria and Enteroviruses

Question 29

If a person has decreased T cells what are they at risk for?

Answer 29

Sepsis

CMV, EBV, JCV, VZV

Candida, PCP

Question 30

If a person is deficient in granulocytes what are they at an increased risk for?

Answer 30

Staph
Burkholderia cepacia
Pseudomonas aeruginosa
Serratia
Nocardia

Question 31

A person deficient in compliment is at an increased risk of…

Answer 31

Encapsulated species,–> early component deficiencies

Neisseria–> MAC (late component) deficiency