Immunodeficiency Defect Flashcards Preview

First Aid Rapid Review KAM > Immunodeficiency Defect > Flashcards

Flashcards in Immunodeficiency Defect Deck (14):
1

IL2R gamma chain defect

SCID

2

ADA deficiency

SCID

3

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

Ataxia telangiectasia

4

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

Wiscott aldrich disease

5

CD40L mutation (X-linked)

Hyper IgM syndrome

6

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

Chediak Higashi

7

Defect in LFA-1 integrin on phagocytes, impaired migration
Autosomal recessive

Leukocyte adhesion deficiency

8

NADPH oxidase, X-linked

Chronic granulomatous disease

9

BTK defect, tyrosine kinase gene
X-linked

X-linked (bruton's) agammaglobulinemia

10

Most common primary immunodeficiency

Selective IgA deficiency

11

Defect in B cell differentiation

Common variable immunodeficiency

12

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

Thymic aplasia (DiGeorge's syndrome)

13

Th17 deficiency due to STAT3 mutation

Job syndrome

14

Decreased Th1 response, autosomal recessive

IL-12 receptor deficiency