Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... |
OMIM:618982 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Infectious encephalitis, Arthritis |
ORPHA:42642 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Recurren... |
OMIM:308240 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hyperammonemia, Abnormal aortic valve morphology, Hypertroph... |
ORPHA:1194 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep derm... |
OMIM:212050 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Conjunctivitis, Meningitis, Infectious encephaliti... |
ORPHA:448237 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Hypoalbu... |
ORPHA:292 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... |
ORPHA:1163 |
Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Inc... |
OMIM:267700 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Infectious encephalitis, Cardiomyopathy |
ORPHA:3386 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Infectio... |
ORPHA:549 |
Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... |
OMIM:615122 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Typhoid |
|
Skin rash, Infectious encephalitis |
ORPHA:99745 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Abnormal hear... |
ORPHA:781 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hypertriglyceridemia, Skin rash, Increased circulating ferritin co... |
OMIM:603553 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis... |
ORPHA:31204 |
Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Skin rash, Maculopapular exanthema, Increased circulating ferritin concentr... |
ORPHA:540 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocardit... |
ORPHA:533 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Microsporidiosis |
|
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... |
ORPHA:2552 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal heart morphology, Cardiomyo... |
ORPHA:354 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis |
ORPHA:363558 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... |
ORPHA:73263 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... |
ORPHA:391487 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic ora... |
OMIM:308230 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
Immunodeficiency 46 |
|
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Elevated circulatin... |
ORPHA:1304 |
Poliomyelitis |
|
Meningitis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... |
ORPHA:83597 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Meningitis, Pneumonia |
ORPHA:464370 |
Japanese Encephalitis |
|
Hyponatremia, Meningitis, Infectious encephalitis |
ORPHA:79139 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... |
OMIM:233600 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Infectious encephalitis |
ORPHA:68 |
Cysticercosis |
|
Abnormal myocardium morphology, Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Rift Valley Fever |
|
Skin rash, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Incontinentia Pigmenti |
|
Keratitis, Infectious encephalitis, Uveitis, Skin rash |
ORPHA:464 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis |
ORPHA:847 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... |
OMIM:300400 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... |
ORPHA:3392 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... |
ORPHA:324625 |
Alexander Disease |
|
Infectious encephalitis |
ORPHA:58 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pharyng... |
ORPHA:829 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating ferritin ... |
OMIM:616050 |
Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Meningitis |
OMIM:607115 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Abnormal heart valve morphology, Pericardial effusion, Uveitis, Inflamma... |
ORPHA:36412 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis |
OMIM:612260 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperkalemia, Recurre... |
ORPHA:293987 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Follicular Lymphoma |
|
Meningitis |
ORPHA:545 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... |
ORPHA:169090 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... |
ORPHA:31202 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Retrobulbar optic neuritis, Meningitis, Uv... |
ORPHA:1451 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... |
ORPHA:809 |
Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... |
ORPHA:379 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Erysi... |
OMIM:249100 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Hep... |
ORPHA:2331 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Recurrent ... |
OMIM:617718 |
Gorham-Stout Disease |
|
Osteomyelitis, Meningitis |
ORPHA:73 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... |
ORPHA:228123 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Hy... |
ORPHA:544482 |
Angiostrongyliasis |
|
Unusual CNS infection, Meningitis |
ORPHA:74 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... |
OMIM:600802 |
Giant Cell Arteritis |
|
Pericarditis, Recurrent pharyngitis, Arthritis, Meningitis, Double outlet right ventricle with su... |
ORPHA:397 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... |
ORPHA:342 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Unusual CNS infection, Abnormal myocardium... |
ORPHA:297 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Sepsis In Premature Infants |
|
Disseminated viral infection, Elevated circulating C-reactive protein concentration, Severe infec... |
ORPHA:90051 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... |
ORPHA:900 |
Progressive Multifocal Leukoencephalopathy |
|
Meningitis |
ORPHA:217260 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein conce... |
ORPHA:449395 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, Decreased circulating copper concentration, Severe viral infection,... |
ORPHA:139417 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the la... |
ORPHA:906 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... |
OMIM:301000 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec... |
ORPHA:707 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Prostatitis |
ORPHA:1546 |
Hydranencephaly |
|
Dilatation of the ventricular cavity, Meningitis |
ORPHA:2177 |
Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
Trichinellosis |
|
Skin rash, Meningitis, Conjunctivitis |
ORPHA:863 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis |
ORPHA:509 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Malar ras... |
ORPHA:50918 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity |
OMIM:229300 |
Sacral Defect With Anterior Meningocele |
|
Meningitis |
OMIM:600145 |
Friedreich Ataxia |
|
Cardiomyopathy |
ORPHA:95 |