Immune Disorders High Yield Flashcards Preview

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Flashcards in Immune Disorders High Yield Deck (31):
1

"recurrent bacterial and enteroviral infections after the age of 6 mo"

X lined agammaglobulinemia

2

What is the mutation in x lined agammagloblinemia?

Defect in BTK--> tyrosine kinase gene

No B cell maturation

3

What is the most common primary immuno deficency?

Selective IgA deficiency

4

"increased airway and GI infections and atopy and autoimmune diseae"

Selective IgA deficienct

5

"defect in B cell differentiation"

Common variable immunodeficiency

6

What is the deletion of DiGeorge syndrome?

22q11 deletion

7

"tetany, recurrent viral and fungal infections, conotruncal abnormalitie"

Digeorge

Tetany is due to hypocalcemia

8

Inheritance pattern of IL-12 receptor deficiency?

AR

9

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

Th1

10

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

AR hyper IgE syndrome

11

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

SCID

12

What condition is caused by a defect in ATM gene?

Ataxia- telangiectasia

13

What does ATM gene do?

DNA double strand break repair

14

"cerebellar defects, spider angiomas, IgA deficiency"

Ataxia- telangiectasia

15

What causes hyper-IgM syndrome?

defective CD40L on Th cells leading to a class weitching defect

16

What is the inheritance of HyperIgM syndrome?

X linked recessive

17

"T cell inability to reorganize actin cytoskeleton--> WAS gene mutation"

Wiskott Aldrich Syndrome

18

What are the 3 main symptoms of Wiskott Aldrich syndrome

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

19

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

Leukocyte adhesion deficiency

20

What is the defect in eukocyte adhesion deficiency?

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

21

"defect in lysosomal trafficking regulator gene"

Chediak Higashi Syndrome

22

"microtuble dysfunction in phagosome lysosomal fusion"

Chediak Higashi Syndrome

23

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

Chronic granulomatous disease

24

What organisms are problematc in chronic granulomatous disease?

Catalase +

25

Name some catalase (+) organisms?

Need PLACESS

Nocardia

Pseudomonas
Listeria
Aspergillus
Candida
E. coli
S. aureus
Serratia

26

What is the lab test for Chronic granulomatous disease?

(-) nitroblue tetrazolium dye

27

What is the lab test for Chronic granulomatous disease?

(-) nitroblue tetrazolium dye

28

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

Encapsulated bacteria and Enteroviruses

29

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

Sepsis

CMV, EBV, JCV, VZV

Candida, PCP

30

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

Staph
Burkholderia cepacia
Pseudomonas aeruginosa
Serratia
Nocardia

31

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

Encapsulated species,--> early component deficiencies

Neisseria--> MAC (late component) deficiency

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