Immune diseases Flashcards
Ankylosing spondylitis
HLA B27
90% -100% relative risk
Autoimmune diseases HLA
HLA-DR
i.e. RA, TI DM has a 4% increased risk
IEM HLA
21-hydroxylase deficiency (BW47)
hereditary hemochromatosis HLA-A
Anaphylaxis
TI
causes vascular shock, edema, dyspnea
d/t administration of foreign proteins, drugs, food, insect toxins
Myasthenia gravis
Type II
Ab against ACh receptors
Graves disease
Type II
Ab stimulates TSH-R
Transfusion reactions
Type II
preformed host Abs attack donor cels
EBF
Type II IgG from mother cross placenta and attack fetal blood antigens
autoimmune hemolytic anemia
type II
produce Abs agaisnt their own blood cells
Adverse drug reactions
Type II
drugs act as a hapten and attach to RBCs to which Abs react
Goodpasture
type II
Abs against IV collagen in the BM of glomeruli and lungs
acute serum sickness
Type III
causes arthritis, vasculitis, nephritis
fibrinoid necrosis of the vessels
deposition of immune complexes d/t introduction of large amount foreign substance
Tuberculin reaction PPD
Type IV DTH
previously sensitized individuals
re-exposure causes reddening and induration at site 8-12h post-exposure
granulomatous infection
strong T cell activation to persistent non-degradable antigen (TB)
a. Activates macrophages into epithelioid cells
contact dermatitis
- Contact with urushiol causes vascular dermatitis
a. Epidermal blistering with mononuclear infiltrates
MS
Type IV
protein antigens in CNS
demyelination with perivascular inflammation, paralysis, ocular lesions
AIRE mutation
autoimmune polyendocrinopathy
IPEX
loss of FOXp3 signaling No Tregs (peripheral tolerance) systemic autoimmune disease
ALPS
(autoimmune lymphoproliferative syndrome)
mutations in the Fas gene decreases peripheral tolerance
SLE dx
Type III HS
ANA Abs and dsDNA Abs and Smith antigen
antiphospholipid Abs–>+ syphyllis test,
formation of immune complexes and failure to remove apoptotic bodies
SLE sx
acute necrotizing vasculitis Renal (glomerularnephritis) Malar rash (IC deposition at dermo-epidermal junction) Joint pain w/o deformity Neuropsychiatric (seizures, psychosis) pericarditis nonbacterial verrucous endocarditis (Libman-Sacks) Pleuritis Fever and fatigue hemolytic anemia
drug induced Lupus erythematous
hydralazine, procainamide, isoniazid, d-penicillamine
anti-histone Ab-s
Sjogren syndrome
AI destruction of lacrimal and salivary glands
mixed T/B tumor
+rheumatoid factor, antibodies against SSA (ro) and SSB (la)
xerostomia, dry-eyes
increased risk for lymphomas
increased risk for other autoimmune disorders (RA)
Systemic sclerosis
CD4+ mediated microvascualr damage and narrowing –>fibrosis and widespread damage to blood vessels
DNA topoisomerase Abs
sclerotic atrophy, edema, increased collagen in dermis, thickening of dermis, ulceration, raynauds, GERD, pulmonary HTN, pericarditis, renal HTN and failure
CREST
limited system sclerosis
calcinosis, raynauds, esophageal dysfunciton, sclerodactylyl, telangiectasia
**anti-centromere Abs
inflammatory myopathies
AI damage of skeletale mm.
histidyl tRNA synthetase antigen (Jo-I)
Mixed CT disease
mixture of SLE, SS, polymyositis
renal involvment, corticosteroids
U1 RNP Abs
polyarterites Nodosa
necrotizing inflammation of walls of blood vessels
non-infective vasculitis
RA
autoimmune mediated damage of synovium, joints, extra-articular tissue
Rheumatoid nodules can present on other tissue
seroposotive spondyloarthropathy and serositis
Goodpasture syndrome
type II
Abs against non-collagenous domain of collagen IV
destruction of BM of lungs, renal glomeruli
glomerulonephritis and pneuomonitis
x-linked Agammaglobulinemia
failure of maturation during b cell development
d/t mutation in Btk gene
begin after 6mo (after maternal Ig end)
recurrent bacterial infections or extracellular virus
absent B cells and Ig, underdeveloped nodes, normal T cells
Common variable immunodeficiency
Defect in B cell ability to mature into plasma cells
recurrent bacterial infections or extracellular virus
normal B cell levels, absent Ig levels
hyperplastic B cell areas (d/t loss of feedback inhibition)
concordance with autoimmune disease
Isolated IgA deficiency
low levels of serum and secretory IgA
most common immunodeficiency
defect in mucosal defenses
resp, GI, and UG tract infections
increased risk for asthma and AI disease d/t class switch to IgE
Hyper-IgM
x linked mutation in the CD40L prevents class switching and affinity maturation of BCRs normal/high IgM, no IgA, G, or E
IgM are reactive to blood causing hemolytic anemias, thrombocytopenias, neutropenias
recurrent bacterial infections d/t loss of opsonization
p. jiroveci
DiGeorge
T cell defect resulting from failure of 3rd and 4th pouchs to form
thymic aplasia–>no T cells–> increased viral and fungal infections
normal-low Igs
loss of parathyroids–>tetany
craniofacial and cardiac defects
SCID
defects in T cell development –>secondary defects in B cell function
chronic infection, thrush, diaper rash, FTT
maternal cells can cause GVH
treatment= bone marrow transplant or gene therapy
Wiskott- Aldrich
XLR
TIE= thrombocytopenia,infections, eczema,
depletion of peripheral T cells
Low IgM, normal IgG, High IgA and IgE
Kaposi Sarcoma
induced by KS herevirus
vascular tumor with spindle shaped cells mixed endothelial and smooth muscle, slit-like vascular spaces
found on face and mouth
AIDS related cancers
Kaposi sarcoma (KS herpes virus)
systemic lymphomas, CNS lymphomas (EBV)
carcinomas of cervix and anala canal (HPV)
