Immunodefeciency

Question 1

Defective gene in X-linked (Bruton) agammaglobulinemia

Answer 1

BTK - a tyrosine Kinase

X-linked recessive

Question 2

Defective gene in: IgA def.

Answer 2

Unknown
Most common primary immunodeficiency
Asymotomatic
Airway and GI infections
Autoimmune
Atopy
Anaphylaxis to IgA*

Question 3

Defective gene in: Common Variable Immunodeficiency (CVID)

Answer 3

Defect in B-cell differentiation

Question 4

Defective gene in: Autosomal dorminant hyper-IgE syndrome (Job Syndrome)

Answer 4

Def. of TH17 cells due to STAT3 mutation–>impaired recruitment of neutophils

Question 5

Defective gene in: Severe combined Immunodeficiency (SCID)

Answer 5

JAK 3 mutation (AR)–>both girls and boys
defective IL-2R gamma chain (X-linked)
Adenosine deaminase def (AR)

Question 6

Defective gene in : Hyper IgM syndrome

Answer 6

CD40L (CD154) on TH cells–>class switching
x-linked recessive
increased IgM decreased IgG

Question 7

Defective gene in: Wiskott-Aldrich Syndrome

Answer 7

WAS gene.

Question 8

Defective gene in: Leukocyte adhesion def (type 1)

Answer 8

LFA-1 integrin (B2) - CD18 on phagocytes
impaired migration and chemotaxis
AR
Type 2: e-selectin defect

Question 9

Defective gene in Chedaki-Higashi syndrome

Answer 9

Lysosomal trafficking regulator gene (LYST)

Question 10

Defective gene in Chronic Granulomatous disease

Answer 10

defect in NADPH oxidase

Cats Need PLACESS to Belch Hairballs.

Question 11

Defective gene in Ataxia-Telangiectasia

Answer 11

ATM gene–> failure to repair DNA double strand breaks–>cell cycle arrest.
Triad: Ataxia (cerebellar purkinje cell degeneration), Angiomas, IgA def.
increased AFP