Immunodeficiencies--Nelson

Question 1

X-linked agammaglobulinemia

Answer 1

mutation in Burton’s TK

B-cell maturation failure

6 mo old typical presentation

Question 2

Common Variable Immunodeficiency

Answer 2

plasma cell differentiation failure

hypogammaglobulinemia

compensatory B-cell hyperplasia

Question 3

DiGeorge Syndrome

Answer 3

failure of 3rd and 4th pharyngeal arch failure

22q11 deletion syndrome subtype

thymic hypoplasia –> T-cells gone

Question 4

Hyper IgM Syndrome

Answer 4

Class switching failure

CD40L X-linked mutation

pneumocystis jivoveci

Question 5

SCID

Answer 5

common γ chain deficiency

X-linked

no T- or B-cells

Question 6

Wiskott-Aldrich Syndrome

Answer 6

WASP (Wiskott-Aldrich syndrome protein) mutation

decreased IgM

thrombocytopenia, eczema, recurrent infection

Question 7

X-linked lymphoproliferative disorder

Answer 7

fulminent mononucleosis

SLAM protein associated

–> continued T- and NK-cell activation

Question 8

Cheiak-Higashi Syndrome

Answer 8

CHS1/LYST gene defect

–> defective phagosome/lysosome trafficing

pathognomonic giant leukocytes

Question 9

Biochemical hemostatic disorders causing immunodeficiencies

Answer 9

DM

renal insufficiency

malnutrition

Question 10

Aslenia bad bugs

Answer 10

S. pneumoniae, H. influenzae, N. meningitidis