Term
| Systemic Lupus Erythematosus |
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Definition
Cause:
Abnormal T helper cells stimulate B cell hypersensitivity. ANA antibodies against DNA form autoimmune complexes that deposit in blood vessels.
Immune Hypersenstivity Type III
Clinical Features:
1. Malar Rash
2. Discoid Rash~adherent kertotic scaling
3. Photosensitivity
4. Oral Ulcers
5. Arthritis without deformity
6. Serositis; (Pleuritis, pericarditis)
7. Renal; proteinuria
8. Neurologic; seizures or phychoses
9. Type II immune reaction causing Leukopenia or throbocyto
10. Immune issues; Prolonged TTP without bleeding; + syph
11. Elevated ANA |
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Term
| Chronic Discoid Lupus Erythematosus |
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Definition
Causes:
Similar to SLE. Clinically milder. Only 5-10% multisystem involvement.
Clinical:
1. 35% ANA +
2. Immune Complex deposits in lesions only |
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Term
| Drug-Induced Lupus Erythematosus |
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Definition
Cause:
Antibody mediated immune complex to procainamide, isoniazid and D-penicillamine.
Clinical:
ANA to histones, but No anti-DS DNA and Hypocomplememia rare |
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Term
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Definition
Causes:
Primary: (isolated)sicca syndrome
Secondary: (60% of cases) associated with RA
periductal and perivascular infiltrate CD4+ T cells; followed by B cell recuitment; destruction of glads by organ specific inflammation
Clinical:
1. 90% Female
2. 2ndary lymphoma
3. Lungs; thick bronchial secretions;chronic infections
4. Renal; tubulo-interstital nephritis |
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Term
| SCLERODERMA: Progressive Systemic Sclerosis or PSS |
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Definition
Cause:
perivascular CD$+ (oligoclonal) lymphocytosis and collagen degeneration. Then endothelial injury and platelet activation; endothelial intimal fibrosis and arterial wall thickening; occlusion and fibrosis
Clinical:
1. dysphagia
2. heartburn
3. myalgias
4. fatigue
5. Joint pain
6. Raynaud's |
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Term
| CREST Varient (Scleroderma) |
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Definition
CREST:
c-Calcinosis
r-raynauds
e-esophageal dysfunction
s-scerodactyly
t-telangiectasia
ANTI-centromere antibodies |
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Term
| Diffuse sceroderma-CREST+widespread skin involvment |
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Definition
1. sclerodactyly~leading to stone face
2. Primary cause of death: renal failure
-onion skinning intimal of glomerular nephritus
3. Also death from pulmonary hypertension |
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Term
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Definition
Causes:
Combination of scleroderma and SLE any combination of sympotoms. no anti-DS DNA
CLinical:
1. No renal disease
2. Very responsive to steroids |
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Term
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Definition
Causes: CD8+ lymphocytic infiltration around muscle fibers-adults; ANA against RNA synthetases; (JO-1 antigen) will get interstitial lung disease
Clinical:
1. Proximal muscle weakness; difficulty getting up from chair or climbing stairs
2. Fine motor skills of distal muscles not impaired till late in disease. |
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Term
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Definition
Cause:
CD4+ T cells and B cells in muscle not in areas of injury; capillaries the target of c5b- MAC complement; perfascicular atrophy from ischimia
Clinical:
1. Rash lilac discoloration of upper eyelids
2. Proximal muscle weakness; adults and children
3. Concurrent malignancy (75%) LUNG CA |
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Term
| Hashimoto's Disease (Hypothyroid) |
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Definition
Causes:
Autoantibodies to thyroglobulin and thyroid peroxidase; CTL attack thyroid epitheial cells. Formation of antibodies to thyroid proteins.
Clinical:
1. Thyriod infiltrated by WBCs leading to inflammation
2. |
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Term
| Graves Disease (Hyperthyroid) |
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Definition
Cause:
Antibody (IGg) against receptor for TSH leading to over stimulation of thyroid.
Clinical:
1. Elevated T3 + T4
2. Goiter; Hyperthyroidism
3. Sometimes concurrent with Hashimoto's |
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Term
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Definition
Cause:
IGg autoantibody to receptor for acetylcholine (Ach)blocking neuromuscular junction signaling.
Clinical:
1. Ocular weakness; asymmetric ptosis; diplopia;
2. Dysphagia; palatal weakness
3. Limb weakness; made worse by sustained exercise |
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Term
| X-Linked Agammagloblinemia (Bruton's Disease) |
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Definition
-only males
-defective B cell tyrosine kinase gene
-Decrease in IG_'s (all 5 isotypes)
-Small tonsils
-numerous infections: H. influ; Strep. pneumoniae
Treatment: antibiotics, IgG |
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Term
| Transient Hypogammaglobulinemia |
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Definition
-sluggish B cells to produce IgG
-low IgG
-defective CD4+ t helper cells
Treatment:
Symptomatic |
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Term
| Common Variable Hypogammaglobinemia |
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Definition
-B cells don't mature; divide; produce antibody
-Decline in T cell function
-Autoimmune disease and malignancy
-frequent infections
Treatment:
antibiotics; pooled IgG |
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Term
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Definition
-most common
-failure in terminal differentiation of IgA producing B cells
-Recurrent sinopulmonary infections
-autoimmune disease
Treatment:
antibiotics; symptomatic |
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Term
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Definition
-very rare
-failure in terminal differentiation of IgG~B cells
Treatment:
antibiotics; pooled IgG |
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Term
| Immunodeficiency with high IgM |
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Definition
-B cells can't switch from IgM
-high IgM; most other isotypes are low or absent
-Liver cancer/abnormalities
Treatment:
antibiotics, pooled IgG |
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Term
| DiGeorge Syndrome (Congenital thymic aplasia) |
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Definition
-pharyngeal pouch 3+4 defect
-no t cells; no thymus
-no parathyroid~hypocalcimia (tetany,seizures)
-cleft palate
-cardiac/great vessel transformation
-Learning disabilities
-C. albicans infections, live vaccine can be fatal
Treatment:
transplantation of fetal thymus, cardiac surgery, CA++ supplements, antibiotics |
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Term
| Chronic Mucocutaneous Candidiasis |
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Definition
-chronic skin infections (C. albicans)
-selective T cell defect
-normal B and T cells; except T cells for C. albicans
Treatment:
antifungal |
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Term
| Severe Combined Immunodeficiency Disease (SCID) |
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Definition
-"Bubble boy" disease
- Defective lymphod cells~no B or T cells
- 1)X linked gene defect of y-chain IL-2 receptor
2) Adenosine deaminase enzyme deficiency
3) Bare lymphocytes~no HLA I or II; or both
4) Reticular dysgenesis~most sever infant will die in few weeks
- Skin rash
- susceptible to infections
- Live vaccine can kill
Treatment:
bone marrow transplant; ADA enzyme injections |
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Term
| Wiskott-Aldrich Syndrome (WAS) |
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Definition
-mutation in gene for WASP protein
-IgM level is low; HIGH IgA (IgE)
-decline in T cell
-Throbocytopenia, abnormal platlets, bleeding, eczema
Treatment:
antibiotics, antiviral drugs, topical steroids for eczema, platelet transfusion, bone marrow transplant |
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Term
| Ataxic-Telangiectasia (AT) |
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Definition
-Defective ATM gene that assists in DNA repair
1) TCR genes defective
2) Heavy chain genes of antibodies
- IgA low
-Lymphoma/leukemia
-Severe cerebellar ataxia muscle incoordination
-Spider like enlargement of Blood vessels
Treatment:
supportive care, IgG |
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Term
| Chronic Granulomatous Disease (CGD) |
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Definition
-Neutrophils, monocytes, macrophages are deficient
-deficiency in NADPH oxidase
-granulomatous abscesses, in lymph nodes, lung, liver
-increased infections
Treatment:
broad spec. antibiotics, antifungal, I&D of abscesses, bone marrow transplant, IgG |
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Term
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Definition
-deficient neutrophils, monocytes, macrophages
-mutated lysosomal trafficking regulator gene
-low enzymes in lg granules
-Low killing by NK and T cytoxic cells
-albinism; photophobia; rapoid involuntary eye movements, other abnormalities
Treatment:
antibiotics, bone marrow transplant |
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Term
| Primary Complement Deficiency |
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Definition
A. Early (C1, C2, C3)
C3 deficiency- increased incidence of autoimmune disease
Late (C5,C6,C7,C8,C9)
Gram negative infection most common for mid to late
B. Hereditary Angioedema
C1 inhibitor deficiency~normally inhibits C1qrs activation;factor XII and kallikrein
increased vascular permeability
Swelling of skin and mucus membranes
swelling of larynx
no increase of infections |
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Term
| Causes of secondary Immunodeficiencies |
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Definition
A. General
-poor nutrition
-very young
-very old
B. Immunosuppressive Drugs
-drugs for disease, organ transplantation, AI diseases, allergies
C. Protein Loss-Hyogammaglobulinemia
-protien losing enteropathies
-Nephrotic syndrome
-Burns
D. Infections
-CMV-infects T cells
-Eptstein Barr virus- infects B cells
- Rubella
-TB and M. leprae
E. Other
-DM
-Severe Liver disease
-EtOH
-Uremia
-Anesthetic agents
-Radiation
-Lymphoproliferative disorders
-Splenectomy |
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