Immuno Diseases

Question 1

Severe Congenital Neutropenia

Answer 1

Lack in ability to produce or maintain neutrophils
Frequent bacterial infections
Neutropenia (

Question 2

Chronic granulomatous disease

Answer 2

Inability to produce hydrogen peroxide and hypochlorous acid
NADPH phagosome oxidase deficiency
Inability to kill phagocytosed bacteria
STAPH is a big problem (catalase +)

Question 3

Chediak Higashi Syndrome

Answer 3

Defect in LYST (CHS1) - lysosomal trafficking

Increased susceptibility to bacterial infecitions

Question 4

Leukocyte adhesion deficiency

Answer 4

Lack of integrin subunit, common b chain
Inability to recruit innate immune cells to site of inflammation
Increased susceptibility to bacterial, fungal and viral infections

Question 5

X linked agammaglobulinemia

Answer 5

absence of B lymphocytes

Question 6

CD40 ligand deficiency

Answer 6

Failure of immunoglobulin class switching 
NOTE: in Nelson's lecture called hyper IgM (makes sense, no class switching means tons of IgM)

Question 7

Activation Induced Cytidine Deaminase Deficiency

Answer 7

Failure of immunoglobulin class switching

Question 8

Common Variable Immunodeficiency

Answer 8

A failure to produce antibodies against particular antigens

Question 9

Omenn Syndrome

Answer 9

VDJ recombination failure. No BCRs or TCRs.

RAG

Question 10

X linked SCID

Answer 10

Failure to produce mature T lymphocytes

Question 11

DiGeorge

Answer 11

Failure of thymus to develop

Question 12

Hemophagocytic lymphohistiocytosis

Answer 12

Failure of CD8 t cells and NK cells to produce lytic granules

Question 13

IPEX

Answer 13

failure of peripheral tolerance due to defective regulatory t cells

Question 14

MHC I deficiency

Answer 14

Chronic Resp. Infections (VIRAL)
Low CD8 T cell count
Failure to process antigen
Granulatomatous lesions on skin (over active NK)

Question 15

MHC I def labs

Answer 15

Elevated IgG
Normal WBC
Normal type 4 hypersensitivity
90% CD4, 10% CD8

Question 16

Cause MHC1 def

Answer 16

Defect in TAP

Not effectively able to bring in peptide fragment to RER and MHC I cannot escape to surface

Question 17

Treatment of MHC 1

Answer 17

No stem cell transplant

Question 18

MHC II deficiency

Answer 18

SCID
High B cell count
CD4 count low
CD8 count low

Question 19

Labs MHC II deficiency

Answer 19

PHA normal: tests ability for T cells to go through mitosis ( a normal response rules out ‘classical’ SCID)
Serum Igs low
WBC elevated
1:3 ratio CD4 to CD8

Question 20

Cause of MHC II deficiency

Answer 20

NO HLA-DQ or HLA-DR
T cells that respond to non specific mitogen like PHA
IFNgamma fails to induce MHC II expression on APC

Question 21

immunodeficiency XLA

Answer 21

block of pro b to large pre b cell (btk mutation)

Question 22

IPEX

Answer 22

Foxp3- so loss of t reg cells and peripheral tolerance

Question 23

APECED

Answer 23

AIRE mutation. No neg. selection