Immunodeficiencies

Question 1

What is Bruton’s agammaglobulinemia?

Answer 1

Defect in chromosome X of BTK gene which is resposnible for b-cell maturation

Question 2

What is the triad of Kartagener’s syndrome?

Answer 2

Situs invertus, chronic sinutitis, bronchiectasis

Question 3

What does a C3 deficiency predispose patients to?

Answer 3

Pyogenic infections

Question 4

What systemic disease does a C1qrsC4C2 deficiency lead to?

Answer 4

defective clearance of apoptopic cells leads to SLE like symptoms

Question 5

What does a C5-9 deficiency predispose patients to?

Answer 5

Recurrent neisseria infections

Question 6

What does a splenectomy predispose patients to?

Answer 6

The spleen protects against encapsulated bacteria as it is essential in producing IgM in the acute phase of infection

Question 7

What does a deficiency in NK calls cause?

Answer 7

Susceptible to herpes zoster and CMV. Patients experience overwhelming infection with herpes.

Question 8

What is DiGeorge’s syndrome?

Answer 8

Absent jaw development and thymus development. Usually present with lymphopoenia.