Immune deficiency

Question 1

2 yo multiple ear infections, diarrhea, pneumonia, no tonsils on exam

Answer 1

Bruton agammaglobulinemia (X-linked)

Question 2

17yo with decreased IgG, IgM, IgE, and IgA but normal numbers B cells

Answer 2

combined variable immune deficiency (acquired) - complication = increased lymphoid tissue/increased risk for lymphoma

Question 3

most common B-cell defect, recurrent URIs, diarrhea

Answer 3

Selective IgA deficiency (anaphylaxis if given blood w/IgA)

Question 4

3wo M with seizure, truncus arteriosus, micrognathia

Answer 4

DiGeorge (microdeletion on ch22)

Question 5

infant with severe infections, no thymus/tonsils, severe lymphopenia

Answer 5

SCID

Question 6

3yo with recurrent swollen, infected lymph nodes in groin, staph aureus skin abscesses

Answer 6

CGD (XLR) test with nitrotetrazolium blue (pos = yellow)

Question 7

18mo M baby with severe eczema, petechiae, recurrent ear infections

Answer 7

Wiskott-Aldrich (low GM, high AE)

Question 8

CGD - what is defect?

Answer 8

NADPH oxidase, intrcellular killing

Question 9

CGD - which organsms infect?

Answer 9

aspergillus, S aureus, Serratia, Klebsiella (catalase +)

Question 10

Giardia infections - which deficiency, which cell type?

Answer 10

IgA, B-lymphocyte maturation

Question 11

complement deficiency - infections?

Answer 11

Gonococcal, meningococcal

Question 12

which cell line deficient in DiGeorge?

Answer 12

T-cells

Question 13

SCID - enzyme deficiency?

Answer 13

adenosine deaminase

Question 14

SCID - deficient in which cells?

Answer 14

T and B

Question 15

T cell deficit - which infections?

Answer 15

viral and fungal

Question 16

B-cell deficit - which infections?

Answer 16

bacteria

Question 17

Brutons agammaglobulinemia - which enzyme?

Answer 17

tyrosine kinase in B cells

Question 18

Brutons agamma - levels of B cells?

Answer 18

LOW

Question 19

common variable immunodeficiency - levels of B cells?

Answer 19

nomal

Question 20

respiratory, GI, GU infections - dx?

Answer 20

IgA deficit

Question 21

delayed umbilical cord separation

Answer 21

leukocyte adhesion deficiency type 1

Question 22

necrotizing periodontitis, no pus at infection sites, S aureus and gram neg bacilli, bx shows inflamm w/o neutrophils

Answer 22

leukocyte adhesion deficiency type 1

Question 23

low circulating lymphocytes

Answer 23

SCID

Question 24

s/p splenectomy - risk of which types of orgs?

Answer 24

encapsulated

Question 25

how are encapsulated orgs killed?

Answer 25

antibody mediated opsonization in phagocytosis

Question 26

high IgM, low A/G - which syndrome? which defect?

Answer 26

hyper IgM, X-linked CD40 ligand