Immuno Diseases Flashcards
Severe Congenital Neutropenia
Lack in ability to produce or maintain neutrophils
Frequent bacterial infections
Neutropenia (
Chronic granulomatous disease
Inability to produce hydrogen peroxide and hypochlorous acid
NADPH phagosome oxidase deficiency
Inability to kill phagocytosed bacteria
STAPH is a big problem (catalase +)
Chediak Higashi Syndrome
Defect in LYST (CHS1) - lysosomal trafficking
Increased susceptibility to bacterial infecitions
Leukocyte adhesion deficiency
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
X linked agammaglobulinemia
absence of B lymphocytes
CD40 ligand deficiency
Failure of immunoglobulin class switching NOTE: in Nelson's lecture called hyper IgM (makes sense, no class switching means tons of IgM)
Activation Induced Cytidine Deaminase Deficiency
Failure of immunoglobulin class switching
Common Variable Immunodeficiency
A failure to produce antibodies against particular antigens
Omenn Syndrome
VDJ recombination failure. No BCRs or TCRs.
RAG
X linked SCID
Failure to produce mature T lymphocytes
DiGeorge
Failure of thymus to develop
Hemophagocytic lymphohistiocytosis
Failure of CD8 t cells and NK cells to produce lytic granules
IPEX
failure of peripheral tolerance due to defective regulatory t cells
MHC I deficiency
Chronic Resp. Infections (VIRAL)
Low CD8 T cell count
Failure to process antigen
Granulatomatous lesions on skin (over active NK)
MHC I def labs
Elevated IgG
Normal WBC
Normal type 4 hypersensitivity
90% CD4, 10% CD8
Cause MHC1 def
Defect in TAP
Not effectively able to bring in peptide fragment to RER and MHC I cannot escape to surface
Treatment of MHC 1
No stem cell transplant
MHC II deficiency
SCID
High B cell count
CD4 count low
CD8 count low
Labs MHC II deficiency
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
Cause of MHC II deficiency
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
immunodeficiency XLA
block of pro b to large pre b cell (btk mutation)
IPEX
Foxp3- so loss of t reg cells and peripheral tolerance
APECED
AIRE mutation. No neg. selection
