HLA and Disease Associations

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).- Behçet’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-Barré Type).- Guillain-Barré 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 Alternaría 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.- Sjögren’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.