Immunology

Question 1

Brutons Agammaglobulinemia: Defect? Presentation? Findings?

Answer 1

1) X-linked recessive defect in BTK–>no B cell maturation
2) Recurrent bacterial infections after 6 months
3) Norml pro-b, dec maturation, dec all immunoglobulins

Question 2

1 year old baby with recurrent sinus infections. 2 bouts of pneumonia; low IgG; no CD19+ cells– Diagnosis? Defect?

Answer 2

1) Brutons Agammaglobulinemia
2) Defect in BTK

Question 3

Selective IgA Deficiency: Defect? Presentation? Findings?

Answer 3

1) Most common primary immunodeficiency; mech unknown
2) Asymptomatic or sinupulmonary infections, GI infections; anaphylaxis to IgA containing blood products
3) Low IgA with noraml IgD, M, G; False positive B-HCG tests due to heterphile antibody

Question 4

Child with recurrent sinopulmonary infections and GI infections; received blood transfusion and went into anaphylactic shock– possible diagnosis?

Answer 4

1) Selective IgA; cannot receive blood products with IgA in it

Vague question

Question 5

Common Variable Immunodeficiency: Defect? Presentation? Findings?

Answer 5

1) B cell maturation
2) 20-30yo; Inc risk of autoimmune disease; lymphoma; sinupulmonary infections
3) Normal number of B cells and dec plasma cells/ immunoglobulin

Question 6

25yo man with history of sinupulmonary infections and psoriatic arthritis presents with lymphoma. Possible Immune deficiency?

Answer 6

1) CVID– inc risk of autoimmunity; lymphoma; sinopulmonary infections

Question 7

Cyclospor