11 - Immunodeficiency Diseases

Question 1

Which immunodeficiency can lead in recurrent meningococcal and gonococcal infections?

Answer 1

C5, C6, C7, C8 or C9 deficiency (affect both complement pathways)

Question 2

Defect in tyrosine kinase, blocking the bone marrow maturation of B-cells. Principal sign.

Answer 2

Bruton X-linked hypogammaglobulinemia

Low Ig of all classes

Question 3

Hereditary angioedema, what is the defect? Sign and expression of the disease.

Answer 3

C1-INH deficiency
Overuse of C1, C4, or C2
Edema at mucosal surfaces

Question 4

High serum IgM levels without other isotypes. Cause of it.

Answer 4

X-linked hyper IgM syndrome

CD40L deficiency on activated T-cells

Question 5

Cause of chronic granulomatous disease. Principal sign or symptom.

Answer 5

NADPH deficiency ▶️ ⬇️ oxygen radicals

⬆️ susceptibility for catalase (+) bacteria and fungi

Question 6

How distinguish SCID from MHC class II deficiency (bare lymphocyte syndrome)?

Answer 6

Bare lymphocyte syndrome ▶️ respond to unspecific T-cell mitogens and to stimuli with allogenic cells
SCID ▶️ not response to mitogens