Glossary of Immune Deficiency Disorders

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Bruton's Agammaglobulinemia
Ass'd w/ what gene defect?
defect in tyrosine kinase gene ass'd with low levels of Ig (arrest of maturation at preBcell level - in bone marrow high # cells with cytoplasmic mu chains)
Recurrent bac infxn after 6 mos old
Selective Immunoglobulin Deficiency
usu IgA deficiency
defect in isotype switching (failure of heavy-chain gene switching in B cells)
lung and sinus infections
DiGeorge Syndrome
failure of 3rd and 4th pharyngeal arches
presents with TETANY d/t hypocalcemia
Cardiac defects
Abnl facies
Thymic hypoplasia (aplasia)
Cleft palate
22 q11
Recurrent viral and fungal infections
Chronic Mucocutaneous candidiasis
T-cell dysfn specifically against Candida albicans
defect in early stem-cell differentiation
recurrent viral, bacterial, fungal, protazoal infxns
buzz: tyrosine kinase ZAP-70, IL-2 defect (X-linked), adenosine deaminase deficiency
(B+T cell deficiency)
IgM defect vulnerable against bacterial capsular polysaccharides
IgA elevation
1. pyogenic infections
2. eczema
3. thrombocytopenia
Ataxia telangiectasia
(B+T cell deficiency)
DNA repair defect: IgA deficiency
ataxia and spider angiomas
Chronic granulomatous disease
Defect in phagocytosis of neutrophils d/t defective NADPH oxidase
Susceptible to infxn by bac - esp Staph aureus, E coli, and aspergillus
Tx: IFN-gamma
DX confirmed by NEGATIVE nitroblue tetrazolium dye reduction test
Defect in microtubular fn and lysosomal emptying of phagocytes.
*recurrent pyogenic infxns by staph and strep
Job's syndrome
Th cells don't make IFN-g, so neutrophils fail to respond to chemotactic stimuli
*recurrent "cold" (noninflamed) abscesses, eczema, elev. IgA
Leukocyte Adhesion Deficiency
defect in LFA-1 proteins on phagocytes
presents early in life with severe pyogenic infections
Hyper-IgM syndrome
(Phagocytic deficiency)
Defect in CD40-L on CD4 T cells --> no class switching
presents early in life with severe pyogenic infections
elev IgM (low levels everything else)
TX: pooled gamma globulin
(70% cases are X-linked)
IL-12 Receptor Deficiency
(phagocytic deficiency)
Presents with disseminated mycobacterial infections - meningitis!
What does complement defend against?
gram negative bacteria
What is the classic pathway for complement and what activates it?
Activated by IgG and IgM
-is responsible for viral? neutralization, as it responds to Ag/Ab complexes
-C1 -> C1 esterase ->C2 and C4 -> C3 convertase -> C3 (-> C5 convertase/C5 -> -> MAC
What is the alternative pathway for complement and what activates it?
activated by microbial surfaces, toxins, endotoxin from gram- bac
-C3(H2O) +B+D -> C3 convertase/C3 -> C5 convertase/C5 -> -> MAC (made of MC5b, 6,7,8) -> lysis, cytotoxicity
C3b is responsible for
C3a and C5a can produce
C5b-9 can lead to
cytolysis by membrane attack complex
Deficiency of C1 esterase -> ?
hereditary angioedema (overactive complement) - increased capillary permeability
Deficiency of C3
severe, recurrent, pyogenic sinus and respiratory tract infections
-increased susceptibility to staph aureus
Deficiency of C6-C8
Neisseria bacteremia (meningitis!)
Deficiency of Decay Activating Factor (DAF)
Paroxysmal Nocturnal Hemoglobinuria
PNH (paroxysmal nocturnal hemoglobinuria)
-What is decreased?
-complement-mediated hemolysis
-brown urine in the morning
-decreased LAP (leukocytic alkaline phosphatase)
Which complement deficiency is most common?
-may be asx or may have lupus or rheumatoid dz
C2 and C4 deficiencies are associated with what?
SLE-like disease. (AI)
Mechanism of interferon
Induce production of a protein that inhibits viral protein synthesis by degrading viral mRNA (but not host mRNA)
(INTERFERon INTERFERes with viral protein synthesis)
-also stimulates NK cells to kill virus-infected cells
IFN gamma
increase MHC I and II expression and Ag presentation in all cells
-secreted by Th cells
-stim macrophages
-secreted by macrophages
-stimulates Tcells, Bcells, neutrophils, fibroblasts, epithelial cells to grow, differentiate, or synthesize specific products
-an endogenous pyrogen
-secreted by Th
-Stim growth of Th and Tc cells
-Secreted by activated T cells
-supportsgrowth and differentiation of bone marrow stem cells
-fn similar to GM-CSF
-secreted by Th
-promotes growth of B cells
-enhances synthesis of IgE and IgG
-secreted by Th
-promotes differentiation of B cells
-enhances synthesis of IgA
-stim production and activation of eosinophils
major chemotactic factor for neutrophils
-secreted by Th
-inhibits Tc and IFN gamma
-secreted by macrophages
-increases IL-2 rec synthesis by Th
-increases B cell prolif
-attracts/activates neutrophils
-stimulates migration to lymph node
(found in low concentrations)
-secreted by activated T cells
-sim to TNF alpha
"HOT T-BONE stEAk" ?
IL-1 - pyrogen
IL-2 - T cell stimulation
IL-3 - growth/stim BM stem cells
IL-4 - IgE synthesis
IL-5 - IgA synthesis
Costimulatory signal for Th activation?
CD28 on Th cell
B7 on B cell
What proteins do macrophages have on their cell surface?
MHC II and CD14
What receptors do NK cells display on their cell surface?
MHC I and CD16 - CD56 is most specific marker
Which cells do NOT display MHC I?
What is associated with high levels of TNF?
septic shock
tumor necrosis
TGF = transforming growth factor
-T, B, macrophages
-inhibits T cells, dampens immune response
-enhances collagen synthesis
After what exposures are patients given preformed antibodies? (4)
Tetanus Toxin
Botulinum toxin
(To Be Healed Rapidly)
Bacteria that use antigen variation
Salmonella (2 flagellar variants)
Borrelia (relapsing fever)
N. gonorrhea (pilus protein)
Viruses that use antigen variation
influenza (major=shift; minor=drift)
Parasites that use antigen variation
trypanosomes (programmed rearrangement -> recurrent sleeping sickness)
Common variable immune deficiency
abnl B cell differentiation (but nl # of B cells - unlike agammaglobuliemia)
decreased plasma cells, inadequate immunoglobulin production
-usu low levels of all Ig
-recurrent bacterial infections
lack of germinal centers in ____
(and severe cases of SCID)
SLE haplotype(s)
HLA-DR2 and -DR3
Diabetes type I haplotype(s)
HLA-DR3 and -DR4
Hemochromatosis haplotype(s)
Ankylosing Spondylitis
Inflm bowel disease
Reiter's sxme
Rheumatoid arthritis
MHC I deficiency
Inability to produce Tc cells, because they cannot be selected for in the thymus
-repeated viral infections
-serious infection after MMR vaccine
Bare lymphocyte syndrome
No MHC II -> no/ few CD4 cells, but normal level of B cells
Antibody-dependent cell-mediated toxicity
body reacts to large tissue parasites by coating them with IgE, which trigger eosinophil-mediated cytotoxicity (form of Type II hypersensitivity) and release of vasoactive and spasmogenic substances from mast cells and basophils (local anaphylaxis, a form of type I hypersensitivity)
Goodpasture sxme
celiac sprue
Type I Diabetes
Type I Diabetes
pemphigus vulgaris
Pernicious anemia
juvenile RA
steroid-responsive nephrotic sxme
made by leukocytes
inhibits viral replication
made by fibroblasts
inhibits viral replication
Isotype switching requires what?
1. IL-4 : binds to B cell
2. CD40 on B cell : binds to CD40L on activated T cell
What are the 2 most important chemotactic factors for neutrophils
C5a and IL-8
Graves disease is ass'd w/ which HLA types?
Which HLA types is Hashimoto's ass'd w/?
Which Ig fixes complement only via the alternative pathway?

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