Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... |
OMIM:617638 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder |
OMIM:131440 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Allergic rhinitis |
OMIM:147050 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, S... |
ORPHA:217390 |
Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi... |
ORPHA:2902 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... |
OMIM:236000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Squam... |
OMIM:243700 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Increased circulating IgE level, Recurrent pneumonia, Lack of T cell function, Abnorma... |
ORPHA:277 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... |
OMIM:153600 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... |
OMIM:300400 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169160 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Bronchiectasis, Eosinophilia |
OMIM:618523 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Asthma, ... |
ORPHA:449400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decrea... |
OMIM:619752 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia, Cutaneous abscess |
OMIM:147060 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Aspergillosis |
|
Sinusitis, Eosinophilia, Pneumonia, Hematological neoplasm, Dyspnea, Asthma, Increased circulatin... |
ORPHA:1163 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decreased cir... |
OMIM:618282 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... |
OMIM:614470 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased circulatin... |
OMIM:618394 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Decr... |
ORPHA:353298 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Allergic rhinitis, Asthma, Increased circulating IgE lev... |
OMIM:615816 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Myelodysplasia, Acute lymphobla... |
ORPHA:486 |
Netherton Syndrome |
|
Allergic rhinitis, Asthma, Increased circulating IgE level, Hypereosinophilia, Chronic rhinitis, ... |
OMIM:256500 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... |
ORPHA:724 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto... |
ORPHA:2070 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Cough, Decreased DLCO, Pu... |
OMIM:178500 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th... |
ORPHA:911 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... |
OMIM:615559 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia, Lymphoma, Cough |
ORPHA:2314 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Myeloma, Multiple |
|
Paraproteinemia, Multiple myeloma |
OMIM:254500 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Abnormal lymphocyte morphology, An... |
ORPHA:39041 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increase... |
OMIM:209950 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Roifman Syndrome |
|
Splenomegaly, Recurrent pneumonia, Eosinophilia |
OMIM:616651 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Netherton Syndrome |
|
Asthma, Emphysema, Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased... |
OMIM:616005 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Increase... |
ORPHA:397596 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Asthma, Increased circulating antibody level, Splenic cyst, Peritoneal abs... |
ORPHA:400 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Lead Poisoning |
|
Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy... |
ORPHA:330015 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Spleno... |
ORPHA:37042 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, Pneumonia, Abno... |
ORPHA:276 |
Loeffler Endocarditis |
|
Dyspnea, Eosinophilia, Cough |
ORPHA:75566 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... |
OMIM:618048 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Agammaglobulinemia, X-Linked |
|
Wheezing, Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Decreased circulating total Ig... |
OMIM:300755 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Chilblain Lupus |
|
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Dyspnea, Abnormal spleen morphology, Increased circulating antibody ... |
ORPHA:284 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Lymphoma, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Dyspnea, Interstitial pneumonitis, Lymphocytosis, Cough |
ORPHA:139402 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia |
ORPHA:293173 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449563 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Leukocytosis, Anemia, Increased circulating antib... |
ORPHA:3392 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Hypoalbuminemia |
OMIM:615508 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Cough |
ORPHA:183 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Coccidioidomycosis |
|
Respiratory distress, Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Increased circ... |
ORPHA:228123 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Neutrophilia, Eosinophilia, Myelodysplasia, Pulmonary embolism, Thrombocyto... |
ORPHA:3260 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulat... |
OMIM:618495 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Eosinophilia, Rhinorrhea |
OMIM:158310 |
Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth a... |
ORPHA:2686 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Facial capillary hemangioma, Leukocytosis, Patent ductus arteriosus, Hepatosplenome... |
OMIM:274000 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma |
ORPHA:199299 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... |
ORPHA:101096 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Selective Igm Deficiency |
|
Paraproteinemia, Decreased proportion of transitional B cells, Thyroid carcinoma, Decreased propo... |
ORPHA:331235 |
Incontinentia Pigmenti |
|
Verrucae, Pulmonary arterial hypertension, Eosinophilia |
ORPHA:464 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Boutonneuse Fever |
|
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia... |
ORPHA:83313 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia |
ORPHA:48104 |
Lymphatic Filariasis |
|
Circulating immune complexes, Wheezing, Hypereosinophilia, Restrictive ventilatory defect, Cough |
ORPHA:2035 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Splenomegaly, Increased circulating IgE level, Neoplasm, Polysplenia, Hepatoblast... |
ORPHA:373 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Tachypnea... |
OMIM:615934 |
Prolidase Deficiency |
|
Chronic lung disease, Splenomegaly, Asthma, Recurrent pneumonia, Anemia, Increased circulating an... |
OMIM:170100 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachypnea, Increased circulating interferon-ga... |
ORPHA:542323 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Multiple myeloma |
ORPHA:48377 |
Incontinentia Pigmenti |
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Leukocytosis, Eosinophilia |
OMIM:308300 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
C3 Glomerulopathy |
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Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Trichothiodystrophy 3, Photosensitive |
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Lymphopenia, Neutropenia, Neoplasm of the skin, Increased circulating IgA level |
OMIM:616395 |
Mucopolysaccharidosis-Plus Syndrome |
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Respiratory distress, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Recurrent pneumon... |
OMIM:617303 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Epistaxis, Microcytic anemia, Thromb... |
ORPHA:906 |
Tropical Endomyocardial Fibrosis |
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Orthopnea, Increased circulating interleukin 6 concentration, Eosinophilia, Dyspnea, Splenomegaly... |
ORPHA:75565 |
Simple Cryoglobulinemia |
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Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal immunoglobulin M proteinemia... |
ORPHA:91139 |
Ebola Hemorrhagic Fever |
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Dyspnea, Leukopenia, Increased circulating antibody level, Cough, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Sarcoidosis |
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Hemolytic anemia, Eosinophilia, Dyspnea, Increased T cell count, Pneumothorax, Bronchiectasis, Up... |
ORPHA:797 |
Poems Syndrome |
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Lymphoproliferative disorder, Respiratory insufficiency due to muscle weakness, Restrictive venti... |
ORPHA:2905 |
Viss Syndrome |
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Exostosis of the external auditory canal, Dyspnea, Asthma, Pneumothorax, Increased circulating Ig... |
OMIM:619472 |
Multiple Myeloma |
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Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Scleromyxedema |
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Paraproteinemia, Elevated circulating creatine kinase concentration, Multiple myeloma, Exertional... |
ORPHA:167635 |
Congenital Analbuminemia |
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Hypoproteinemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia |
ORPHA:86816 |
Papa Syndrome |
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Increased circulating antibody level |
ORPHA:69126 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration |
ORPHA:90003 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Gaucher Disease Type 1 |
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Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... |
ORPHA:77259 |
Mevalonic Aciduria |
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Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Zika Virus Disease |
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Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Al Amyloidosis |
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Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Dyspnea,... |
ORPHA:85443 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Sinusitis, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hy... |
ORPHA:171 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Respiratory distress, Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Stridor, In... |
ORPHA:505248 |
Hyper-Igd Syndrome |
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Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... |
OMIM:260920 |
Insulin-Resistance Syndrome Type B |
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Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgA lev... |
ORPHA:2298 |
Lassa Fever |
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Dyspnea, Increased circulating IgM level, Cough |
ORPHA:99824 |
Autoimmune Hepatitis |
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Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Q Fever |
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Respiratory distress, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pleural effu... |
ORPHA:781 |
Japanese Encephalitis |
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Respiratory distress, Neutrophilia, Increased circulating IgM level, Respiratory paralysis, Incre... |
ORPHA:79139 |
Primary Sjögren Syndrome |
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Normocytic anemia, Lymphoproliferative disorder, Lymphocytic interstitial pneumonia, Nonproductiv... |
ORPHA:289390 |
Tick-Borne Encephalitis |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... |
ORPHA:297 |
Dermatomyositis |
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Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Respiratory insufficienc... |
ORPHA:221 |
Encephalitis Lethargica |
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Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Increased circulating IgA level |
ORPHA:343 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Bronchiectasis, Hypoxemia,... |
OMIM:181000 |
Lysinuric Protein Intolerance |
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Thrombocytopenia, Increased circulating ferritin concentration, Intraalveolar phospholipid accumu... |
ORPHA:470 |
Postinfectious Vasculitis |
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Abnormal circulating protein concentration, Pneumonia, Elevated circulating C-reactive protein co... |
ORPHA:48435 |
Brucellosis |
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Liver abscess, Lung abscess, Pneumonia, Elevated circulating C-reactive protein concentration, Hy... |
ORPHA:1304 |
Aapoaiv Amyloidosis |
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Paraproteinemia, Chronic pulmonary obstruction |
ORPHA:439232 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Primary Biliary Cholangitis |
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Increased circulating IgM level, Hypoalbuminemia, Increased circulating IgA level |
ORPHA:186 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Pulmonary arterial hype... |
ORPHA:77261 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Pneumonia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:615846 |
Cushing Disease |
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Decreased eosinophil count, Leukocytosis, Lymphopenia, Pituitary corticotropic cell adenoma |
ORPHA:96253 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Rift Valley Fever |
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Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Gaucher Disease |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Respiratory in... |
ORPHA:355 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Epistaxis, Spleno... |
ORPHA:99827 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal tubular epithelia... |
ORPHA:91500 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Cysticercosis |
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Increased circulating antibody level |
ORPHA:1560 |