HLA and Disease Associations

HLA and Disease Associations

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The human leukocyte antigen (HLA) or tissue types are the products of a rapidly developing field of knowledge within the last 20 years. In the early stages of the research many investigators suspected the existence of a complex series of transplantation antigens, but it was widely believed that these antigens would not be well-defined even in this century. Yet in the last two decades as many as 124 different HLA antigens determined by at least 7 very closely linked genes located on the short arm of chromosome 6 have been identified and subsequently agreed upon by an international nomenclature committee. 1 Extensive international collaboration fueled by the potential clinical application of these antigens to clinical transplantation has advanced the field rapidly. There were nine inter national histocompatibility workshops held during this period. Although iden tification of HLA antigens was of primary clinical importance in transplantation 2 and of great basic interest in human genetics and anthropology, a rather un expected bonus has been the determination that HLA antigens are associated with disease susceptibility to a greater extent than any other known genetic marker in man. In the past, many genetic polymorphisms have been suspected to be associated with diseases. The most extensively studied markers are blood groups, enzymes, and serum proteins. A comprehensive account of published studies, totalling approximately 1,000, of these markers is available in a book by Mourant et al.
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Product details

  • Paperback | 472 pages
  • 210 x 280 x 25.65mm | 1,210g
  • New York, NY, United States
  • English
  • Softcover reprint of the original 1st ed. 1985
  • 472 p.
  • 1461385474
  • 9781461385479

Table of contents

1 HLA Nomenclature.- 2 The HLA Complex.- History.- The Genes of the HLA Complex.- Inheritance of HLA.- Frequencies of HLA Antigens.- Racial Variations in Antigen Frequencies.- Cross-Reactivity.- Linkage Disequilibrium.- Typing Methodology.- 3 The Data and Statistical Analysis.- The Data.- Population Data Analysis.- Family Data Analysis.- Diagnostic Value of HLA Typing.- Interpretation of the Data and the Analysis.- 4 Mechanisms of HLA and Disease Associations.- General Background.- Mechanisms.- 5 Overview.- Summary of the Most Significant Associations.- HLA Antigens Associated with Diseases.- 6 Rheumatology and Joint Diseases.- Brachymetacarpia.- Congenital Dislocation of Hip.- Spina Bifida.- Idiopathic Scoliosis.- Ossification of Posterior Longitudinal Ligament of the Cervical Vertebrae.- Dactylitis ("Sausage-Like" Toes).- Hydroxyapatite Rheumatism (Calcific Periarthritis).- Low Back Pain.- Chondrocalcinosis.- Hereditary Chondrocalcinosis.- Perthes' Disease.- Paget's Disease.- Frozen Shoulder.- Arthritis (Unspecified).- Rheumatoid Arthritis.- Juvenile Rheumatoid Arthritis.- Malignant Rheumatoid Arthritis.- Seronegative Pauciarticular Arthritis.- Seronegative Peripheral Arthritis.- Seronegative Chronic Polyarthritis.- Gonococcal Arthritis.- Psoriatic Arthropathy (Unspecified).- Psoriatic Arthropathy (Central).- Psoriatic Arthropathy (Peripheral).- Psoriatic Arthropathy (Peripheral and Sacroiliitis).- Post-Yersinia Arthritis.- Postgonorrhoic Arthritis.- Postshigellosis Arthritis.- Postmeningococcal Arthritis.- Postrubella Vaccination Arthropathy.- Post-Salmonella Arthritis.- Septic Arthritis Due to Klebsiella.- Reactive Arthritis After Campylobacter jejuni Enteritis.- Reactive Arthritis After Mycoplasma pneumoniae Infection.- Sexually Acquired Reactive Arthritis.- Pseudopolyarthritis of the Spine.- Ankylosing Spondylitis.- Ankylosing Spondylitis in Inflammatory Bowel Disease.- Seronegative "Spondylitic Variant" Syndrome.- Vertebral Ankylosing Hyperostosis (Forestier's Disease).- Sacroiliitis.- Polyarthrosis of Hands.- Mechanical Disorders of the Spine.- Osteoarthritis.- Osteitis Condensans Ilii.- Juvenile Dermatomyositis.- Caplan's Syndrome.- Neurogenic Paraosteoarthropathy.- Spondylarthritis in Chronic Brucellosis.- Amyloidosis in Rheumatoid Arthritis.- Gout.- Reiter's Disease.- 7 Dermatology.- Psoriasis Vulgaris.- Pustular Psoriasis.- Guttate Psoriasis.- Erythrodermic Psoriasis.- Persistent Palmoplanter Pustulosis (Pustulosis Palmaris et Plantaris).- Flexural Psoriasis (Psoriasis Inversus, Intertriginous Psoriasis).- Pemphigus Vulgaris.- Pemphigus Foliaceus.- Bullous Pemphigoid.- Benign Mucosal Pemphigoid (Cicatrical Pemphigoid, Ocular Pemphigus).- Benign Familial Pemphigus (Hailey-Hailey's Disease).- Subacute Cutaneous Lupus Erythematosus.- Discoid Lupus Erythematosus.- Atopic Dermatitis.- Atopy (Unspecified, Includes Eczema).- Dermatitis Herpetiformis.- Psoriasiform Napkin Dermatitis.- Seborrheic Dermatitis.- Epidermolysis Bullosa.- Vitiligo.- Urticaria.- Acne Conglobata.- Alopecia Areata.- Keloids and Hypertrophic Scars.- Liehen Planus.- Liehen Sclerosus et Atrophicus.- Pityriasis Rubra Pilaris.- Generalized Granuloma Annulare.- Localized Granuloma Annulare.- Kawasaki's Disease (Mucocutaneous Lymph Node Syndrome).- Behcet's Disease.- Xeroderma Pigmentosum.- Desquamative Erythroderma.- Hutchinson-Guilford Progeria Syndrome.- Werner's Syndrome.- Keratoacanthoma.- Felty's Syndrome.- Goltz-Gorlin Syndrome (Dermal Hypoplasia).- Geographic Tongue.- Erythema Multiforme.- 8 Neurology.- Multiple Sclerosis.- Myasthenia Gravis.- Spinocerebellar Ataxia.- Friedreich's Ataxia.- Muscular Dystrophy.- Myotonic Dystrophy.- Neurolathyrism.- Chronic Relapsing Idiopathic Inflammatory Polyneuropathy (Guillain-Barre Type).- Guillain-Barre Syndrome.- Bell's Palsy (Idiopathic Facial Palsy).- Amyotrophic Lateral Sclerosis.- Migraine.- Cluster Headache.- Infantile Spasms (West's Syndrome).- Epilepsy.- Lennox-Gastaut Syndrome.- Paraplegia and/or Guadriplegia.- Parkinson's Disease.- Motor Neuron Disease.- Spinal Muscular Atrophy.- Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease).- Ataxia-Telangiectasia.- Huntington's Disease.- Subacute Sclerosing Panencephalitis.- Paralytic Dementia.- Neurofibromatosis (Von Recklinghausen's Disease).- Idiopathic Torsion Dystonia.- Syringomyelia.- Sensorineural Hearing Loss.- Anencephaly.- Narcolepsy.- 9 Endocrinology.- Juvenile Diabetes Mellitus (Insulin Dependent).- Maturity-Onset Diabetes Mellitus (Insulin-Dependent).- Maturity-Onset Type Diabetes in Young (MODY).- Gestational Diabetes.- Wolfram Syndrome.- Glucose Intolerance After the Use of Low-Estrogen Oral Contraceptive.- Glucose Intolerance After Renal Transplantation.- Graves' Disease.- Congenital Hypothyroidism.- Subacute Thyroiditis (De Quervain).- Painless Thyroiditis.- Hashimoto's Thyroiditis.- Myxedema.- Polyglandular Failure.- Congenital Adrenal Hyperplasia Due to 11-?-Hydroxylase Deficiency.- Congenital Adrenal Hyperplasia Due to 17-?-Hydroxylase Deficiency.- Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- Adrenocortical Hyperfunction.- Idiopathic Addison's Disease.- Kallman's Syndrome (Hypogonadotropic Hypogonadism and Anosmia).- Multiple Endocrine Adenomatosis (Type I).- Cushing's Syndrome.- Aldosterone Biosynthetic Defect Due to Type 2 Corticosterone Methyl-Oxidase Deficiency.- Primary Ovarian Failure.- Klinefelter's Syndrome.- Transcortin Level in Serum.- Testosterone Level in Serum.- 10 Gastroenterology.- Idiopathic Hemochromatosis.- Celiac Disease.- Wilson's Disease (Hepatolenticular Degeneration).- Alcoholic Liver Disease.- Chronic Idiopathic Pancreatitis.- Chronic Alcoholic Pancreatitis.- Cryptogenic Cirrhosis of the Liver.- Cirrhosis with Unknown Etiology.- Chronic Active Drug-Induced Hepatitis.- Chronic Active Hepatitis Without Hepatitis B Surface Antigen.- Chronic Active Hepatitis with Hepatitis B Surface Antigen.- Chronic Active Cryptogenic Hepatitis.- Chronic Active Hepatitis (Unspecified).- Acute Hepatitis.- Crohn's Disease.- Crohn's Disease with Ankylosing Spondylitis.- Crohn's Disease with Peripheral Arthritis.- Ulcerative Colitis.- Primary Biliary Cirrhosis.- Immunoproliferative Small Intestinal Disease (Mediterranean Abdominal Lymphoma).- Pyloric Stenosis.- Atrophic Gastritis.- Duodenal Ulcer.- Gastric Ulcer.- Porphyria Cutanea Tarda.- Gilbert's Syndrome.- Acute Intermittent Porphyria.- Intestinal Adenomatous Polyposis.- Plummer-Vinson Stricture.- Intrahepatic Cholestasis of Pregnancy.- Primary Sclerosing Cholangitis.- 11 Ophthalmology.- Optic Neuritis.- Acute Anterior Uveitis.- Chronic Uveitis.- Uveitis (Unspecified).- Primary Open-Angle Glaucoma.- Acute Angle-Closure Glaucoma.- Capsular Glaucoma.- Pigmentary Glaucoma.- Ocular Hypertension.- Pigment Dispersion Syndrome.- Eale's Disease.- Stromal Dystrophy.- Fuchs' Endothelial Dystrophy.- Keratoconus.- Cogan's Syndrome.- Scleritis.- Toxoplasmic Retinochorioditis.- Retinitis Centralis Serosa (Central Serous Retinopathy).- Chorioretinitis.- Senile Cataract.- Steroid Induced Cataract.- Juvenile Chronic Iridocyclitis.- Adult Iridocyclitis.- Degenerative Choroidopathy.- Retinitis Pigmentosa.- Rhegmatogenous Retinal Detachment.- Sympathetic Ophthalmia.- Birdshot Retinochoroidopathy.- Pseudoexfoliation of the Lens Capsule.- Thygeson's Superficial Punctate Keratitis.- Hereditary Optic Atrophy.- Adie's Syndrome.- 12 Malignancy.- Carcinoma of the Thyroid Gland.- Carcinoma of the Mouth.- Carcinoma of the Brain.- Carcinoma of the Bladder.- Carcinoma of the Prostate.- Carcinoma of the Ovary.- Carcinoma of the Uterus.- Carcinoma of the Endometrium.- Carcinoma of the Cervix.- Carcinoma of the Breast.- Carcinoma of the Lung and Larynx.- Carcinoma of the Lung.- Carcinoma of the Larynx.- Carcinoma of the Pancreas.- Carcinoma of the Liver.- Carcinoma of the Rectum.- Carcinoma of the Colon.- Carcinoma of the Stomach.- Carcinoma of the Esophagus.- Carcinoma of the Pharynx.- Carcinoma of the Nasopharynx.- Carcinoma of the Salivary Gland.- Carcinoma of the Pituitary Gland.- Testicular Cancer.- Renal Cell Carcinoma.- Carcinoma (Unspecified).- Leukemia (Unspecified).- Granulocytic Leukemia.- Chronic Myeloid Leukemia.- Acute Myeloid Leukemia.- Acute Lymphatic Leukemia.- Chronic Lymphatic Leukemia.- Leukemic Reticuloendotheliosis (Hairy Cell Leukemia).- Lymphoma (Unspecified).- Follicular Lymphoma.- Burkitt's Lymphoma.- Glioblastoma.- Neuroblastoma.- Retinoblastoma.- Uveal Melanoblastoma.- Melanoma.- Malignant Choroidal Melanoma.- Lymphosarcoma.- Reticulosarcoma.- Liposarcoma.- Ewing's Sarcoma.- Osteosarcoma.- Kaposi's Sarcoma.- Trophoblastic Neoplasms.- Choriocarcinoma.- Waldstrom's Macroglobulinemia.- Thymoma.- Colorectal Adenoma.- Multiple Myeloma.- Mycosis Fungoides.- Hodgkin's Disease.- Glioma.- Pheochromocytoma.- Sipple's Syndrome.- Wilms' Tumor.- 13 Allergy.- Allergy to Insulin.- Allergy to Cow's Milk.- Allergy to Dust.- Allergy to Nickel.- Allergy to Chromium.- Allergy to Rye.- Allergy to Ragweed.- Allergy to Aspergillus (Allergic Bronchopulmonary Aspergillosis).- Allergy to Alternaria Tenuis.- Allergy to Formalin.- Allergy to Balsam of Peru.- Allergy to Colophony.- Allergy to Wool Alcohols.- Allergy to Para Group Compounds.- Allergy to Cat Dander.- Pigeon Breeder's Lung.- Farmer's Lung.- Silicosis.- Asbestosis.- Cedar Pollinosis.- Grass Pollinosis.- Flax Byssinosis.- Coalworker's Pneumoconiosis.- Avian Hypersensitivity.- Cryptogenic Fibrosing Alveolitis.- Idiopathic Pulmonary Fibrosis.- IgE Levels in Healthy Individuals.- Hay Fever.- Schonlein-Henoch Nephritis.- Sensitivity to the Odor of Androstenone.- 14 Urogenital Diseases.- Herpes Gestationis.- Habitual Abortion.- Eclampsia.- Preeclampsia.- Infertility (Unexplained).- Peyronie's Disease.- Balanitis.- Azoospermia.- Ureteropelvic Junction Stenosis.- Vesicoureteral Reflux.- Mesangial IgA Glomerulonephritis (Berger's Disease).- Chronic Glomerulonephritis.- Acute Poststreptococcal Glomerulonephritis.- Idiopathic Membranous Nephropathy.- Balkan Endemic Nephropathy.- Nephrotic Syndrome.- Steroid-Responsive Nephrotic Syndrome of Childhood.- Renal Patients Without Hepatitis B Surface Antigens.- Renal Patients Transiently Carrying Hepatitis B Surface Antigens.- Renal Patients Persistently Carrying Hepatitis B Surface Antigens.- Transplant Patients Carrying Hepatitis B Surface Antigens.- Polycystic Kidneys.- Retroperitoneal Fibrosis.- Uremia.- Essential Mixed Cryoglobulinemia.- Benign Hematuria.- Chronic Prostatitis.- Pustular Bacterid of Andrews.- 15 Cardiovascular Diseases.- Rheumatic Fever.- Rheumatic Heart Disease.- Rheumatic Fever and Rheumatic Heart Disease.- Ischemic Heart Disease.- Essential Hypertension.- Hypertrophic Cardiomyopathy.- Alcoholic Cardiomyopathy.- Buerger's Disease.- Atherosclerosis.- Aortic Valve Disorders.- Myocardial Infarction.- Mitral Valve Prolapse.- Aortitis Syndrome.- Congenital Heart Malformation.- Coronary Artery Disease.- Complete Heart Block.- Polyarteritis Nodosa.- Churg-Strauss Vasculitis.- Thrombophlebitis of Leg.- Venous Thromboembolism.- Varicose Veins of Lower Extremities.- Varicocele.- Idiopathic Portal Hypeertension.- Raynaud's Phenomenon.- 16 Connective Tissue Diseases.- Systemic Lupus Erythematosus.- Hydralazine-Induced Systemic Lupus Erythematosus.- Sjoegren's Syndrome (Sicca Syndrome).- Scleroderma.- Mixed Connective Tissue Disease.- Polymyositis.- Dermatomyositis.- Hereditary Hemorrhagic Telangiectasia.- Vasculitis (Venulitis).- Wegener's Granulomatosis.- Polymyalgia Rheumatica.- Temporal Arteritis (Giant Cell Arteritis, Horton's Disease).- Takayasu's Disease.- Eosinophilic Fasciitis.- CREST Syndrome.- 17 Pulmonary Diseases.- Asthma.- Emphysema.- Goodpasture's Syndrome.- Sarcoidosis.- Kartageners Syndrome.- Pulmonary Apical Fibrocystic Disease.- 18 Infectious Diseases.- Leprosy.- Tuberculosis.- Syphilis.- Gonorrhea.- Veneral Urethritis.- Urethritis (Nonspecific and Nongonococcal).- Presumed Ocular Histoplasmosis.- Tetanus.- Mononucleosis.- Congenital Rubella.- Aseptic Meningitis.- Paralytic Poliomyelitis.- Hemophilus Influenza Type B Infection.- Recurrent Herpes Labialis.- Recurrent Corneal Herpes (Herpetic Keratitis).- Recurrent Herpes Progenitalis (HSV-2).- Chronic Brucellosis.- Infection by Schistosoma Mansoni.- Vogt-Koyanagi-Harada Syndrome.- Healthy Hepatitis B Surface Antigen Carriers.- Meningococcal Meningitis.- Meningococcal Infection.- Jacob-Creutzfeldt Disease.- Infection with Measles.- Infection with Rubella Virus.- Dengue Hemorrhagic Fever.- Mumps.- Paracoccidioidomycosis.- Filariasis.- Scabies.- Amyloidosis.- Thalassemia.- 19 Musculoskeletal Diseases.- Tendinous Calcifications.- Iron-Overload-Associated Myopathy.- Dupuytren's Contracture.- 20 Psychiatric Diseases.- Schizophrenia.- Manic-Depressive Disorder.- Psychosis Proto-Infantilis.- Chronic Alcoholism.- Alzheimer's Disease.- Multiple Infarct Dementia.- Autism.- Narcotic Dependence.- Tourette Syndrome.- 21 Hematologic Diseases.- Aplastic Anemia.- Fanconi's Anemia.- Pernicious Anemia.- Idiopathic Autoimmune Hemolytic Anemia.- Congenital Neutropenia.- Chronic Familial Neutropenia.- Autoimmune Thrombocytopenic Purpura.- Idiopathic Thrombocytopenic Purpura.- Paroxysmal Noctural Hemoglobinuria.- Thalassemia Minor.- Erythrocyte Glucose-6-Phosphate Dehydrogenase (G-6-PD) Deficiency.- Positive Direct Coomb's Test.- Hereditary Sperocytosis.- Agranulocytosis Following Treatment with Levamisole.- Von Willebrand's Disease.- Antibody to Factor VIII in Classic Hemophilia.- Benign Monoclonal Gammopathy.- Polycythemia Vera.- Glanzmann's Thrombasthenia Type I.- 22 Complement and Immune Deficiencies.- Complement Factor C1q Deficiency.- Complement Factor C1r Deficiency.- Complement Factor C2 Deficiency.- Complement Factor C3 Deficiency.- Complement Factor C4 Deficiency.- Complement Factor C6 Deficiency.- Complement Factor C7 Deficiency.- Complement Factor C8 Deficiency.- IgA Deficiency.- Immunodeficiency (Unspecified).- 23 Immune Response.- Immune Response to Influenza Virus.- Immune Response to Vaccinia Virus.- Immune Response to Cytomegalovirus.- Immune Response to Measles.- Immune Response to Rubella Virus.- Immune Response to Rotavirus.- Immune Response to Varicella/Zoster Virus.- Immune Response to Tetanus Toxoid.- Immune Response to Streptococcal Antigens.- Immune Response to Tuberculin.- Immune Response to Schistosoma Japonicum.- Immune Response to Salmonella Adelaide.- Immune Response to Candida Allergen.- Immune Response to Milk.- Immune Response to Gluten.- Immune Response to Egg.- Immune Response to Rh(D) Antigen.- Immune Response to Synthetic Amino Acids.- Immune Response to Penicillin.- Immune Response to Collagen.- Immune Response to Cold Agglutinin.- Immune Response to Heterophil.- Immune Response to Platelet Group PLA1.- Measles Antibodies.- Antibodies to Native DNA.- Anti-Albumin Autoantibody.- Inhibition of Mixed Lymphocyte Culture Reaction by Iron.- Concanavallin A-Induced Suppression.- IgD Level in Serum.- IgM-Rheumatoid Factor in Serum.- Defective Fc-Receptor Function.- Degradation Rate of Sheep Red Blood Cells Endocytized by Macrophages.- Lymphocyte Abnormality.- Interferon Production.- 24 Miscellaneous Diseases.- Age.- Vasectomy.- Familial Mediterranian Fever.- Sudden Infant Death Syndrome.- Plasma Lipids.- Plasma Calcium Level.- Cadmium Blood Level.- Red Blood Cell Zinc Level.- Red Blood Cell Magnesium Level.- Hyperlipoproteinemia Type IIA.- Hyperlipoproteinemia Type IIB.- Hyperlipoproteinemia Type IV.- Periodontitis.- Periodontosis.- Neonatal Hyperbilirubinemia.- Healthy Fetus.- Triploid Conceptus.- Down's Syndrome.- Turner's Syndrome.- Cleft Lip and/or Cleft Palate.- Recurrent Oral Aphthae.- Adductor Laryngeal Paralysis.- Obesity.- Hereditary Angioneurotic Edema (HANE).- Secondary Amyloidosis of Nonrheumatoid Origin.- Cystic Fibrosis.- Hypercholesterolemia.- Alkaptonuria.- Osteomalacia.- Essential Homogeneous Immunoglobulinemia.- Whipple's Disease.- Fletcher Factor Deficiency.- Hemangioma.- Cystinosis.- Cerebrotendinous Xanthomatosis.- Otosclerosis.- Nasal Polyps.- Dental Caries.- Muckle-Wells Syndrome.- Ectopic Ossification After Total Hip Replacement.- Ossification After Spinal Cord Injury.- Relapsing Polychondritis.- Clubfoot (Talipes).- Sex of the Offspring.- Women with Large-for-Dates Infants.- Mate Selection.- Malignant Hyperthermia.- Hypokalemia.- Ferritin Secretion.- Rapeseed Oil Disease.
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