Term
|
Definition
| Type 1 hypersensitivity. Edema, fall in BP (vasodilation), hives, airway constriction, hypermotility of gut. Antigen through absorption or injection: drug, insect bite, food. Activates mast cells. Treat with Epipen. |
|
|
Term
|
Definition
| IgE. Gen anaphylaxis. Allergic rhinitis, asthma, atopic dermatitis, food allergy. |
|
|
Term
|
Definition
| Type 1. Actv mucosal mast cells beneath nasal epithelium. Itching, sneezing. |
|
|
Term
|
Definition
| hives. block with anti-histamine |
|
|
Term
|
Definition
| type 1. eczema, persistent skin rash. corticosteroids |
|
|
Term
|
Definition
| Type 2 IgG. Target RBCs. Hemolysis and anemia |
|
|
Term
| Autoimmune Thrombocytopenic Purpura |
|
Definition
| Type 2 IgG. Target platelet integrin (membrane protein), bleeding |
|
|
Term
|
Definition
| Type 2 IgG. Target noncollagenous protein in basement membranes of kidney, glomeruli, and lung alveoli. Inflamm in lung and kidney. Nephritis, lung hemorrhage. Anti-glomerular basement antibody. (Nephrotic Serum Nephritis) |
|
|
Term
|
Definition
Type 2 IgG. Anti-AchR Antibody. Inhibits Ach binding, down-modulates receptors. Muscle weakness, paralysis. Facial muscles most frequently affected.
Treatment: Anticholinesterase, keep Acetylcholine active longer. |
|
|
Term
|
Definition
| Type 2 IgG. Agonist to TSH-R. Hyperthyroidism. |
|
|
Term
|
Definition
| Type 2 IgG. Target epidermal cadherin, blistering of skin. |
|
|
Term
|
Definition
| Type 2. Ab's to streptococcal Ag cross-react with cardiac muscle. Arthritis, myocarditis, late scaring of heart valves. |
|
|
Term
| Insulin- Resistant Diabetes (IDDM) |
|
Definition
Type 2. Insulin Receptor Antagonist. Hyperglycemia, Ketoacidosis.
Type 4. Pancreatic insulin (beta) cell antigen. Beta-cell destruction. DTH reaction mediated by Th1 cells reactive with islet antigens. CTL lysis of islet cells. Local inflammatory production (IFN-g, IL-1). Treatment- insulin. |
|
|
Term
|
Definition
| Type 2. Insulin Receptor Agonist. |
|
|
Term
|
Definition
| Type 3. Diptheria treated with horse serum. Injection of large dose of protein Ag into blood leads to deposition of IC in blood vessel walls, esp in Kidney and Joints. |
|
|
Term
|
Definition
Type 3. Rheumatoid factor IgG and IgM complexes.
Type 4. Synovial joint antigen. Joint inflammation and destruction.
Association with HLA-DR4. Auto-reactive Th1 cells. Autoantibodies (IgM, IgG)= rheumatic factor. |
|
|
Term
| Systemic Lupus Erythematosus (SLE) |
|
Definition
Type 3. Anti-DNA antibody. Immune complexes deposit in tissue and cause inflammation. ICs activate complement and Fc receptors. Vasculitis, Nephritis, Arthritis.
Treat with corticosteroids, NSAIDS, Anti-malarial drugs, immunosuppression. C1q, C4, C2 deficiency result in heightened susceptibility to lupus. |
|
|
Term
| Delayed-Type Hypersensitivity. |
|
Definition
| Type 4. Insect venom, mycobacterial proteins (tuberculin, lepromin). Local skin swelling, erythema, induration, cellular infiltrate, dermatitis. |
|
|
Term
| Contact Hypersensitivity (dermatitis) |
|
Definition
| Type 4. Poison Ivy (pentadecacatechol), Nickel. Local epidermal reaction. Sensitizing agent penetrates intact skin and binds as a hapten. |
|
|
Term
|
Definition
| Type 4. gluten-sensitive enteropathy. Villous atrophy in small bowel and malabsorption. |
|
|
Term
|
Definition
| Type 4. Myelin basic protein. Brain invasion by CD4 T cells, demyelination, muscle weakness, neurological symptoms. |
|
|
Term
| autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) |
|
Definition
| Defective AIRE. Auto-reactive lymphocytes destroy endocrine tissues. |
|
|
Term
|
Definition
| Rheumatic disease. Autoantibodies directed at lacrimal and salivary glands. No cure. |
|
|
Term
| Chronic Thyroiditis (Hashimoto's) |
|
Definition
| Autoantibody (antagonist) against thyroid peroxidase, Th1 response. Destroy thyroid. |
|
|
Term
|
Definition
| (type 4) Chronic inflammation of GI tract affecting the mucosa and submucosa. Develop granulomatous lesions. |
|
|
Term
|
Definition
| IBD, inflammation usually only seen in colon (compared to crohn's seen throughout intestine). No granulomas (unlike Crohn's disease). |
|
|
Term
|
Definition
| Type 2. Targets intrinsic factor of gastric parietal cells. Neutralization of intrinsic factor, decreased absorption of B12. Abnormal erythropoiesis, anemia. Treatment with B12 injection. |
|
|
Term
| Acute Disseminated Encephalomyelitis ADEM |
|
Definition
Brief, intense attack of inflammation in brain and spinal cord that damages myelin. Often follows viral infection, or less often after vaccination for measles, mumps, rubella.
Symptoms: Fever, fatigue, headache, nausea, vomiting, seizures. coma
Treatment: Suppress inflammation with anti-inflammatory drugs (corticosteroids like methylprednisone) |
|
|
Term
| Acute Inflammatory Polyneuropathy (Guillain-Barre Syndrome) |
|
Definition
| Immune attack on myelin sheaths preventing nerves from sending signals to muscles. May follow bacterial or viral infection. Acute onset, pain in spine and limbs, reflexes lost, weakness and tingling in legs, weakness in breathing/swallowing/coughing. |
|
|
Term
| Classical pathway C1/2/4 deficiency |
|
Definition
| Leads to immune-complex disease. Infection, Lupus. |
|
|
Term
|
Definition
| Leads to bacterial infections, mainly in childhood |
|
|
Term
| Alternative pathway deficiency |
|
Definition
Factor D- cleaves Factor B
Factor P (properdin)- stabilizes C3 convertase of alternative pathway
Infection with pyogenic bacteria and Neisseria. No IC disease.
Severe meningococcal meningitis (neisseria). Rash, high fever, severe headache, stiff neck, nausea, vomiting, sensitivity to light, change in mental status |
|
|
Term
|
Definition
| Infection with pyogenic bacteria and Neisseria. Sometimes IC disease. |
|
|
Term
| MAC components deficiency |
|
Definition
| Leads to infection with Neisseria only. Neisseria is EC bacteria that is mainly cleared by MAC. N. meningitidis, N. gonorrhea |
|
|
Term
| Hereditary Angioneurotic Edema (HANE) |
|
Definition
Deficiency of C1INH. C1INH shuts off classical complement pathway and coagulation cascade. Defects in blood clotting and complement.
Excessive production of vasoactive mediators lead to swelling. Epiglottal swelling can lead to suffocation. GI disturbances include pain, nausea, vomiting, diarrhea.
Symptoms triggered by trauma (temp, exercise, stress) |
|
|
Term
| Factor H, Factor I deficiency |
|
Definition
| Disinhibition of C3 convertase. Depletion of C3, iC3b. Frequent pyogenic infections. Too much C3a leads to too much histamine, hives. |
|
|
Term
|
Definition
Symptoms: First flu-like, then asymptomatic, then swollen LNs, diarrhea, weight loss, fever; then AIDS.
Soaking night sweats, chills/fever, dry cough/shortness of breath, chronic diarrhea, persistent white spots of unusual lesions on tongue or in mouth, headaches, blurred distorted vision, weight loss.
Diagnosis-Positive HIV-antibody, opportunistic infection, CD4 lymphocyte count of 200 or less. CD4 on Tcells and Mphgs is receptor for virus gp120. CCR5 and CXCR4 act as coreceptors.
HIV is retrovirus and uses reverse transcriptase-- error prone leads to drug resistance. Viral DNA presented at cell surface on MHC1. CD8 cells kill infected cells and Ab are made.
Treatment:
Reverse Transcriptase (RT) inhibitors
Protease Inhibitors (blocks replication)
Fusion Inhibitors (blocks viral entry)
HAART: when three or more drugs are used in combination--
Highly Active Anti-Retroviral Therapy. |
|
|
Term
| X-linked Agammaglobulinemia |
|
Definition
Failure to make mature B cells capable of generating Ab's. Mutation of Btk on X csome. Btk needed for maturation of B cells in BM. Prone to serious infections due to absence of Igs, especially those due to free virus and EC bacteria (MHC2).
B cell maturation arrested in pre-B-cell stage.
Typically present in early childhood with repeated infections (middle ear, sinuses, respiratory). Sinusitis, pyoderma, conjunctivitis osteomyelitis, meningitis, sepsis, bronchitis, pneumonia, chronic diarrhea. |
|
|
Term
Common Variable Immunodeficiency (CVID)
AKA Aquired Hypogammaglobulinemia |
|
Definition
Low Ig levels with "normal" B cells that proliferate but don't develop into Ig-producing cells. Susceptible to infection with EC bacteria.
ICOS (T cell proliferation) deficiency, defect in TNF-like receptor TAML. |
|
|
Term
|
Definition
IgA level < 10mg/dL with normal IgG and IgM levels. Most common primary immunodeficiency. Many patients are asymptomatic, some develop recurrent infections and autoimmune disorders.
Increased susceptibility to respiratory infections. IgA protects against infection of mucosal membranes of mouth, airways, GI tract. Avoid blood products that contain IgA, bc patients have Ab's to IgA. |
|
|
Term
| Transient Hypogammaglobulinemia of infancy |
|
Definition
| Temporary decrease in serum IgG and sometimes IgA. IgG levels continue to be low after fall in maternal IgG at 3-6 months. Does not usually lead to significant infections. |
|
|
Term
|
Definition
SCID. CATCH-22: Cardiac abs, Abnormal facies, Thymic hypo/a-plasia, Cleft lip/palate, Hypoparathyroidism. Chromosome 22.
T-cell deficiency. Recurrent infections. Without thymus Tcells cannot mature and both T-cell dependent antibody production and CMI are impaired.
Treatment- transplant cultured thymic tissue |
|
|
Term
| Chronic Mucocutaneous Candidiasis (CMC) |
|
Definition
Overlapping syndromes of persistent, severe, and diffuse cutaneous candidal infections. Affect skin, nails and mucous membranes.
Before age 3, lesions in mouth, esophagus, skin. Similar to yeast and fungal (thrush) infections, but present with disfiguring lesions that become keratotic. Defect related to CMI.
Treat with anti-fungals. |
|
|
Term
|
Definition
absent T cells and low, high, or normal Bcells and NK cells. Opportunistic infections within first 3 mo of life. Lymphopenia- absence or very low T cells numbers. Impaired lymphocyte proliferative response. Bone marrow stem cell transplant.
X-linked combined immunodeficiency, Adenosine Deaminase Deficiency, Bare Lymphocyte Syndrome. |
|
|
Term
|
Definition
| SCID. Mutations in RAG1, RAG2 |
|
|
Term
| X-linked Combined Immunodeficiency |
|
Definition
SCID. "bubble boy". Most frequent form of SCID. Mutation in IL-2R common gamma chain. T cells and NK cells fail to develop normally. B cell numbers are normal but cells aren't functional.
Deficiency in Btk. Reduced size of LNs, thymus, peyer's patch. Mutation in JAK3.
Failure to thrive, oral/diaper candidas, absent LNs, recurrent infex, persistence of infex |
|
|
Term
| Adenosine Deaminase Deficiency |
|
Definition
| SCID. Affects purine degredation, accumulation of nucleotide metabolites that are toxic to developing T cells. B cells are also compromised. |
|
|
Term
|
Definition
| SCID. Defects in expression of MHC2. No class II, no positive selection of CD4 T cells in thymus. Mutations are not in MHC genes, but in genes encoding gene regulatory proteins. |
|
|
Term
|
Definition
Phagocyte deficiency. Neutrophil count of less than 1000 cells/microL. Increase risk of infection with wide range of organisms. Inherited or caused by drugs or toxicity due to viral infection.
Treatment: transfusion of neutrophils or neutrophil growth factors.
Severe congenital neutropenia need BM transplant. |
|
|
Term
| Chronic Granulomatous Disease |
|
Definition
Phagocytic deficiency. WBCs cannot produce O2 (NADPH oxidase) and are defective in phagocytic microbicidal function.
Recurrent infections; multiple granulomatous lesions of lungs, liver, LNs, GI tract; lymphadenitis; hypergammaglobulinemia, anemia.
Treatment: antibiotics, antifungals, IFN-g, granulocyte transfusions
Nitroblue Tetrazolium (NBT) taken up by neutrophils and reduce to dark purple. Diagnostic for CGD. |
|
|
Term
| Leukocyte Adhesion Deficiency |
|
Definition
LAD 1: Integrins
LAD 2: Selectin ligands
Impaired leukocyte diapedesis and leukocyte-APC interactions. LAD1 more common.
Recurrent/progressive necrotic soft-tissue infections with staphylococcal and gm(-) organisms, periodontitis, poor wound healing, leukocytosis, and delayed umbilical cord detachment. WBC counts remain high even between infections.
Diagnosis: use anti CD11/CD18 Abs to show deficiency of adhesive proteins on WBCs.
Treatment: BM transplant, continuous antibiotics, granulocyte transfusions. |
|
|
