Immunodeficiencies combined B and T-cell disorders

Question 1

SCID MC Cause?

Answer 1

IL-2R gamma chain (most common, X-linked)

Question 2

SCID 2nd MCC?

Answer 2

adenosine deaminase deficiency (autosomal recessive).

Question 3

cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency?

Answer 3

Ataxia-telangiectasia

Question 4

Ataxia-telangiectasia MOA?

Answer 4

Defects in ATM gene􏰀failure to repair DNA double strand breaks􏰀cell cycle arrest.

Question 5

Ataxia-telangiectasia you get increased?

Answer 5

AFP

Question 6

Increased IgM and Decreased all other immunoglobulin?

Answer 6

Hyper-IgM snydrome

Question 7

Hyper-IgM snydrome MOA?

Answer 7

Most commonly due to defective CD40L on Th cells=> 􏰀class switching defect

Question 8

Pneumocystis, Cryptosporidium, CMV infections?

Answer 8

Hyper-IgM

Question 9

Thrombocytopenic purpura, Eczema, Recurrent Infections?

Answer 9

Wiskott-Aldrich syndrome

Question 10

Wiskott-Aldrich syndrome you will see increased?

Answer 10

IgE and IgA

Question 11

Wiskott-Aldrich MOA?

Answer 11

Mutation in WAS gene (X-linked recessive); T cells unable to reorganize actin cytoskeleton.

Question 12

Bacterial, Viral and Fungal infections point to?

Answer 12

SCIDs

Question 13

Hyperimmunoglobinemia E=>Job Syndrome

Answer 13

Eosinophilia, Primary Teeth, Staph