Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Pelizaeus-Merzbacher Disease |
|
Mental deterioration, Depression, Failure to thrive, Cerebellar vermis atrophy, Reduction of olig... |
OMIM:312080 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Memory impairment, Inappropriate behavior, Lateral ventricle dilatation, Abnormal upper motor neu... |
OMIM:221770 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impu... |
OMIM:605899 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Depression, EEG with generalized epileptiform discharges, Continuo... |
ORPHA:98818 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Gliosis... |
OMIM:172700 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with... |
ORPHA:2382 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Herpes simplex encephalitis, Confusion, EEG abnormality, Gliosis |
OMIM:613002 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Mental deterioration, Cognitive impairment, Abnormal oligodendrogl... |
ORPHA:217260 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform discharges, Cer... |
ORPHA:163681 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... |
OMIM:615607 |
Juvenile Huntington Disease |
|
Depression, Cerebellar atrophy, Cerebellar vermis atrophy, Irritability, Weight loss, Hyperactivi... |
ORPHA:248111 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Progressive Supranuclear Palsy |
|
Depression, Memory impairment, Emotional lability, Irritability, Gliosis, Cognitive impairment, D... |
ORPHA:683 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, Absence of lymph node germinal center, B lymphocytopenia |
ORPHA:277 |
New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Intericta... |
ORPHA:363558 |
Rasmussen Subacute Encephalitis |
|
Continuous spike and waves during slow sleep, Memory impairment, Increased theta frequency activi... |
ORPHA:1929 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618986 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Memory impairment, Inappro... |
OMIM:619827 |
Phenylketonuria |
|
Depression, Eczematoid dermatitis, Self-mutilation, Irritability, Aggressive behavior, Attention ... |
OMIM:261600 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Mental deterioration, EEG abnormality, Herpes simplex encephalitis |
OMIM:617900 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Cerebellar atrophy, Dementia, Abnormal amplitude of flash visual evoked pot... |
ORPHA:168491 |
Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Obesity, Short attention span, Polyphagia, EEG abnormality, Hyperactivity |
ORPHA:411515 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Obesity, Irri... |
ORPHA:3077 |
Infantile Neuroaxonal Dystrophy |
|
Mental deterioration, Cerebellar atrophy, Aspiration pneumonia, Short attention span, Emotional l... |
ORPHA:35069 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Depression, Failure to thrive, Short attention span, Aggressive beh... |
OMIM:620242 |
Immunodeficiency 115 With Autoinflammation |
|
Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly |
OMIM:620632 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Recurrent ... |
ORPHA:449291 |
Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polyspike wav... |
ORPHA:1942 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... |
ORPHA:331235 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Pitt-Hopkins-Like Syndrome 1 |
|
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Crigler-Najjar Syndrome |
|
Memory impairment, Cognitive impairment, Infectious encephalitis |
ORPHA:205 |
Poliomyelitis |
|
Myelitis, Confusion, Abnormal motor nerve conduction velocity, Irritability, Infectious encephali... |
ORPHA:2912 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... |
OMIM:600802 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
L-2-Hydroxyglutaric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis |
ORPHA:79314 |
Acute Disseminated Encephalomyelitis |
|
Mental deterioration, Myelitis, Herpes simplex encephalitis, Interictal EEG abnormality, EEG with... |
ORPHA:83597 |
Pfapa Syndrome |
|
Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
Hartnup Disease |
|
EEG abnormality, Skin rash, Emotional lability, Infectious encephalitis |
ORPHA:2116 |
Whipple Disease |
|
Uveitis, Depression, Polydipsia, Infectious encephalitis, Myositis, Cachexia, Arthritis, Anorexia... |
ORPHA:3452 |
Alexander Disease |
|
Self-injurious behavior, Depression, Failure to thrive, Emotional lability, Agenesis of corpus ca... |
ORPHA:58 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
Citrullinemia Type Ii |
|
Decreased body mass index, Memory impairment, Confusion, Abnormal eating behavior, Irritability, ... |
ORPHA:247585 |
Neurocutaneous Melanocytosis |
|
Chiari malformation, Infectious encephalitis, Aplasia/Hypoplasia of the cerebellum, EEG abnormali... |
ORPHA:2481 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Childhood Absence Epilepsy |
|
Depression, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attention deficit hyperactivity ... |
ORPHA:64280 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Irritability, Anorexia |
ORPHA:33475 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... |
ORPHA:79124 |
Nipah Virus Disease |
|
Infectious encephalitis, Anorexia |
ORPHA:99825 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Weight loss, Er... |
ORPHA:139402 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Behçet Disease |
|
Memory impairment, Orchitis, Confusion, Recurrent aphthous stomatitis, Irritability, Increased in... |
ORPHA:117 |
Zika Virus Disease |
|
Myelitis, Skin rash, Infectious encephalitis, Arthritis, Conjunctivitis, Maculopapular exanthema |
ORPHA:448237 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... |
ORPHA:83471 |
Gm1 Gangliosidosis |
|
Failure to thrive, Aspiration pneumonia, Oral aversion, Infectious encephalitis, Weight loss, Cog... |
ORPHA:354 |
Choreoacanthocytosis |
|
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Weight loss... |
ORPHA:2388 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Abnormal medulla oblongata morphology, Confusion, Abnormal cerebellum morphology, Irri... |
ORPHA:68 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Confusion, Osteomyelitis, Skin rash, Infectious encephalitis, My... |
ORPHA:36234 |
Lyme Disease |
|
Infectious encephalitis, Memory impairment, Arthritis, Uveitis |
ORPHA:91546 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, EEG with burst suppression, Infectious encephalitis, E... |
ORPHA:79139 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis |
ORPHA:1163 |
Microsporidiosis |
|
Lymphadenitis, Keratoconjunctivitis, Cachexia, Weight loss, Prostatitis, Anorexia, Endocarditis, ... |
ORPHA:2552 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Anorexia, ... |
ORPHA:1304 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Infectious encephalitis, Depression, Agenesis of corpus callosum |
ORPHA:847 |
Congenital Enterovirus Infection |
|
Hepatitis, Skin rash, Infectious encephalitis, Irritability, Myocarditis |
ORPHA:292 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Infectious encephalitis, Colitis, Cholangit... |
OMIM:209920 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Short attention span, Infectious encephalitis |
ORPHA:447788 |
Legionnaires Disease |
|
Hepatitis, Infectious encephalitis, Pancreatitis, Anorexia, Myocarditis, Endocarditis, Pericarditis |
ORPHA:549 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... |
OMIM:618223 |
Typhoid |
|
Skin rash, Infectious encephalitis |
ORPHA:99745 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Infectious encephalitis, Failure to thrive, Irritability |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Infectious encephalitis, Failure to thrive, Irritability |
OMIM:603553 |
Q Fever |
|
Pneumonia, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, Weight loss, Anorexi... |
ORPHA:781 |
Cysticercosis |
|
Mental deterioration, Memory impairment, Confusion, Emotional lability, Infectious encephalitis, ... |
ORPHA:1560 |
Reynolds Syndrome |
|
Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Dysphagia |
ORPHA:779 |
Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Skin rash, Anterior uveitis |
ORPHA:83317 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Aggressive behavior, Failure to thrive, Hyperactivity, Impulsivity |
OMIM:616977 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Infectious encephalitis |
OMIM:308240 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
Listeriosis |
|
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Irritability, Pustule, Infect... |
ORPHA:533 |
American Trypanosomiasis |
|
Myocarditis, Skin rash, Infectious encephalitis |
ORPHA:3386 |
Avian Influenza |
|
Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis |
ORPHA:454836 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Obesity, Emotional lability, Reduced social reci... |
ORPHA:293987 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... |
OMIM:307200 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapular exanthema |
ORPHA:540 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encephalitis, S... |
ORPHA:31204 |
Incontinentia Pigmenti |
|
Keratitis, Skin rash, Infectious encephalitis, Attention deficit hyperactivity disorder, Cognitiv... |
ORPHA:464 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Neoplasm of the pancreas |
ORPHA:2959 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia |
OMIM:300755 |
Zygomycosis |
|
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... |
ORPHA:73263 |
Vici Syndrome |
|
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... |
OMIM:242840 |
Chikungunya |
|
Depression, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovitis, Arth... |
ORPHA:324625 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis, Anorexia |
ORPHA:761 |
Rift Valley Fever |
|
Hepatitis, Skin rash, Infectious encephalitis, Anorexia, Uveitis |
ORPHA:319251 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased proportion of naive T cells, Follicular hyperplasia,... |
OMIM:619381 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... |
ORPHA:391487 |