Immunodeficiencies

Question 1

• no T-cells
• recurrent viral, fungal, and protozoal infections
• congenital heart defects

Answer 1

DiGeorge Syndrome (Thymic aplasia)

Question 2

Unable to make granulomas = recurrent mycobacterial and fungal infections

Answer 2

IL-12 deficiency (no Th1 = no macros)

Question 3

• X-linked
• defective tyrosine kinase gene
• recurrent bacterial infections after 3-6mo old

Answer 3

Bruton agammaglobinemia (B-cell deficiency)

Question 4

• Sinus and lung infections
• associated with atopy and asthma
• anaphylaxis to blood transfusions

Answer 4

IgA deficiency

Question 5

• severe recurrent infections: candidiasis, viruses, P.jirovecii
• chronic diarrhea
• failure to thrive
• no thymic shadow

Answer 5

Severe Combined Immunodeficiency (SCID)

Adenosine deaminase def

Question 6

• poor smooth pursuit with eyes
• radiation sensitivity
• sinus and lung infections
• elevated AFP

Answer 6

Ataxia-Telangiectasia (IgA and T-cell def)

Question 7

• thrombocytopenia
• eczema
• recurrent pyogenic infections
• x-linked

Answer 7

Wiskott-Aldrich syndrome

Question 8

• increased IgM; other antibody isotypes decreased

- AR or x-linked

Answer 8

Hyper-IgM Syndrome (no CD40 ligand on Th)

Question 9

• x-linked
• susceptible to catalase positive organisms
• NBT test is yellow

Answer 9

Chronic Granulomatous Disease (lack NADPH oxidase)

Question 10

• partial albinism
• recurrent respiratory and skin infections
• peripheral neuropathy
• large phagosomal vesicles in neutros

Answer 10

Chediak-Higashi (defective LYST gene)

Question 11

• eczema
• recurrent cold S. aureus abscesses
• doughy skin

Answer 11

Hyper-IgE/Job Syndrome (mutant STAT3) = impaired recruitment of neutros

Question 12

• recurrent bacterial infections w/o pus formation
• impaired wound healing
• delayed separation of umbilical cord

Answer 12

Leukocyte adhesion deficiency (defect LFA-1 integrin/CD18)