Immunodeficiency Defect Flashcards Preview

First Aid Rapid Review KAM > Immunodeficiency Defect > Flashcards

Flashcards in Immunodeficiency Defect Deck (14)
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1
Q

IL2R gamma chain defect

A

SCID

2
Q

ADA deficiency

A

SCID

3
Q

ATM gene defect, leading to failure to repair double strand breaks

A

Ataxia telangiectasia

4
Q

WAS gene (x-linked) T cells unable to reorganize actin cytoskeleton

A

Wiscott aldrich disease

5
Q

CD40L mutation (X-linked)

A

Hyper IgM syndrome

6
Q

LYST (lysosomal trafficking) gene, leading to microtubule dysfunction in phagosome-lysosome fusion
Autosomal recessive

A

Chediak Higashi

7
Q

Defect in LFA-1 integrin on phagocytes, impaired migration

Autosomal recessive

A

Leukocyte adhesion deficiency

8
Q

NADPH oxidase, X-linked

A

Chronic granulomatous disease

9
Q

BTK defect, tyrosine kinase gene

X-linked

A

X-linked (bruton’s) agammaglobulinemia

10
Q

Most common primary immunodeficiency

A

Selective IgA deficiency

11
Q

Defect in B cell differentiation

A

Common variable immunodeficiency

12
Q

22q11 mutation, failure in 3rd and 4th pouch development

A

Thymic aplasia (DiGeorge’s syndrome)

13
Q

Th17 deficiency due to STAT3 mutation

A

Job syndrome

14
Q

Decreased Th1 response, autosomal recessive

A

IL-12 receptor deficiency