Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... |
OMIM:613953 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Systemic lu... |
OMIM:613779 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... |
OMIM:240500 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Congenital Atransferrinemia |
|
Arthritis, Anemia, Recurrent infections |
ORPHA:1195 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Autoimm... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media |
OMIM:312863 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... |
OMIM:607624 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Sepsis, Neutropenia in presence of anti-... |
ORPHA:231154 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... |
OMIM:619707 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... |
OMIM:601457 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infect... |
OMIM:618048 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineutrophil antibody positivity... |
OMIM:301078 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Impaired T cell funct... |
OMIM:613179 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos... |
OMIM:615387 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent fractures, Cra... |
OMIM:147060 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 62 |
|
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... |
OMIM:618459 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion... |
OMIM:606367 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... |
OMIM:620282 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... |
ORPHA:397596 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Recurrent skin infections... |
ORPHA:486 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Recurrent streptococcal infections, Recur... |
OMIM:607676 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Osteoporosis, Bronchiectasis, C... |
OMIM:615468 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... |
OMIM:619281 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Increased circulating IgG level, Increased circulatin... |
OMIM:209950 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial in... |
ORPHA:169090 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233710 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233690 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... |
OMIM:612840 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis |
ORPHA:36237 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... |
OMIM:619375 |
Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Increased circulating antibo... |
ORPHA:90280 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Rhe... |
OMIM:615816 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Tubulointerstitial nephritis, Iron... |
ORPHA:37042 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Increased circulating antibo... |
ORPHA:169160 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... |
OMIM:618394 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp... |
OMIM:617388 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, R... |
OMIM:617475 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:619824 |
Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... |
ORPHA:277 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Maculopapular exanthema, Increased circulating IgM level |
ORPHA:83313 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit... |
OMIM:604416 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti... |
OMIM:619752 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... |
ORPHA:760 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:614069 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... |
OMIM:241600 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:618282 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Polyarti... |
OMIM:616744 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Persistent EBV viremia, De... |
OMIM:619510 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Increased circulating IgE level |
OMIM:616069 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... |
OMIM:619705 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Paroxysmal Cold Hemoglobinuria |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymph... |
OMIM:618935 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... |
OMIM:619652 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... |
OMIM:615934 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... |
OMIM:308240 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:306400 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Severe varicella zoster infection, Recurrent candida infections, Gast... |
ORPHA:48435 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... |
OMIM:615577 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... |
OMIM:614162 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... |
ORPHA:1855 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytop... |
ORPHA:391487 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Joint dislocation, Skin rash, Autoimmunity, Splenomegaly, Uveitis, Inflammatory abn... |
ORPHA:36412 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections |
OMIM:620210 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:612260 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis... |
ORPHA:221139 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... |
OMIM:608233 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... |
ORPHA:3392 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Schnitzler Syndrome |
|
Arthritis, Skin rash, Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency 22 |
|
Pericarditis, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Chronic o... |
OMIM:615758 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula... |
ORPHA:449432 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... |
OMIM:256500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Panniculitis |
OMIM:619183 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Systemic lup... |
ORPHA:90033 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Recurrent in... |
OMIM:617591 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral... |
ORPHA:811 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... |
OMIM:612541 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Decr... |
ORPHA:449395 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r... |
ORPHA:85414 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmu... |
ORPHA:227990 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... |
ORPHA:60033 |
C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Membranoproliferative glomerulonephritis, Para... |
ORPHA:329918 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Joint hypermobility, Spleno... |
OMIM:300972 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Recurrent bacterial infections, Decreased skull ossif... |
OMIM:244460 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Anti-acetylch... |
ORPHA:99867 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulinemia,... |
OMIM:251260 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmu... |
ORPHA:227982 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Conjunctivitis, I... |
ORPHA:448237 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:319251 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Folliculitis, A... |
ORPHA:228123 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... |
OMIM:617053 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan... |
ORPHA:449427 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level |
ORPHA:90368 |
Igg4-Related Thyroid Disease |
|
Sclerosing cholangitis, Increased circulating IgG4 level, Hashimoto thyroiditis, Thyroiditis |
ORPHA:64744 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Pneumocystosis |
|
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... |
ORPHA:723 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Sever... |
ORPHA:206572 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... |
ORPHA:2298 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy... |
OMIM:235700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level |
OMIM:617099 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Autoimmunity, Thrombocytopenia, Splenomegaly, Abnormal natural k... |
ORPHA:158061 |
Leishmaniasis |
|
Rhinitis, Increased circulating antibody level |
ORPHA:507 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i... |
OMIM:242840 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Inflammation o... |
OMIM:615895 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,... |
ORPHA:244 |
Prolidase Deficiency |
|
Recurrent pneumonia, Increased circulating antibody level, Eczema, Crusting erythematous dermatitis |
OMIM:170100 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
Chromomycosis |
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Keratitis, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... |
ORPHA:436252 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Tick-Borne Encephalitis |
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Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Glycogen Storage Disease Ib |
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Splenomegaly, Osteoporosis, Gout, Recurrent bacterial infections, Inflammation of the large intes... |
OMIM:232220 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Infantile Systemic Hyalinosis |
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Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media |
OMIM:602450 |
Transcobalamin Ii Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat... |
ORPHA:449563 |
Mannosidosis, Alpha B, Lysosomal |
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Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... |
OMIM:248500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Pyropoikilocytosis, Hereditary |
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Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Increased circulating IgE level, Atopic dermatitis |
ORPHA:2902 |
Ebola Hemorrhagic Fever |
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Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level |
ORPHA:319218 |
Autosomal Dominant Hyper-Ige Syndrome |
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Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Chronic otitis media |
ORPHA:2314 |
Hyper-Igd Syndrome |
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Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
Vici Syndrome |
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Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Primary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Osteopenia, Chronic neutropenia, Osteoporosis, Enterocolitis, Gout, Ulcerative colitis, Thyroidit... |
ORPHA:79259 |
Lysinuric Protein Intolerance |
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Osteopenia, Glomerulonephritis, Antinuclear antibody positivity, Thrombocytopenia, Osteoporosis, ... |
ORPHA:470 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Tubuloint... |
ORPHA:91500 |
Riddle Syndrome |
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Pneumonia, Recurrent pneumonia, Arthritis, Decreased circulating total IgM, Otitis media, Recurre... |
ORPHA:420741 |
Congenital Disorder Of Glycosylation, Type Ig |
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Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... |
OMIM:607143 |
Lymphoid Interstitial Pneumonia |
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Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Severe viral infection, Bronchie... |
ORPHA:79128 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun... |
ORPHA:647 |
Hereditary Xanthinuria |
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Arthropathy, Rheumatoid arthritis, Recurrent urinary tract infections, Gout |
ORPHA:3467 |
Crimean-Congo Hemorrhagic Fever |
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Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Increased circulating ... |
ORPHA:99827 |
Q Fever |
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Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... |
ORPHA:781 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level |
ORPHA:90003 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Alg12-Cdg |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Patchy osteosclerosis |
OMIM:241410 |
Liver Failure, Infantile, Transient |
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Decreased circulating IgG level |
OMIM:613070 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Osteopenia, Sinusitis, Recurr... |
ORPHA:586 |
Lassa Fever |
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Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Primary Sclerosing Cholangitis |
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Osteopenia, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Autoimmunity,... |
ORPHA:171 |
Bloom Syndrome |
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Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating antibody level, Decreased circula... |
ORPHA:125 |
Mogs-Cdg |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Ataxia-Telangiectasia |
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Sinusitis, Decreased circulating IgG2 level, Bronchiectasis, Decreased circulating IgG level, Def... |
OMIM:208900 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased circulating ... |
OMIM:619381 |
Bloom Syndrome |
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Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... |
OMIM:210900 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rhe... |
ORPHA:49041 |
Primary Sjögren Syndrome |
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Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Say-Barber-Miller Syndrome |
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Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
Trichothiodystrophy 3, Photosensitive |
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Increased circulating IgA level |
OMIM:616395 |
Trichothiodystrophy 1, Photosensitive |
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Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma |
OMIM:601675 |
Lead Poisoning |
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Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... |
ORPHA:330015 |
Gaucher Disease Type 1 |
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Osteoarthritis, Increased circulating antibody level |
ORPHA:77259 |
Congenital Tricuspid Stenosis |
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Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Mucopolysaccharidosis-Plus Syndrome |
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Increased circulating IgM level, Recurrent pneumonia, Nephritis, Bone marrow hypocellularity |
OMIM:617303 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... |
ORPHA:508533 |
Primary Biliary Cholangitis |
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Increased circulating IgM level, Hepatitis, Increased circulating IgA level, Gastrointestinal inf... |
ORPHA:186 |
Congenital Analbuminemia |
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Increased circulating antibody level |
ORPHA:86816 |
Encephalitis Lethargica |
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Increased circulating antibody level |
ORPHA:83600 |
Mgat2-Cdg |
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Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... |
ORPHA:79329 |
Cystic Echinococcosis |
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Membranous nephropathy, Increased circulating antibody level |
ORPHA:400 |
Congenital Disorder Of Glycosylation, Type Ia |
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Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Mevalonic Aciduria |
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Increased circulating IgD level, Skin rash, Morbilliform rash |
OMIM:610377 |
Scleromyxedema |
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Paraproteinemia |
ORPHA:167635 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Aapoaiv Amyloidosis |
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Paraproteinemia |
ORPHA:439232 |
Aicardi-Goutieres Syndrome 7 |
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Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, In... |
OMIM:615846 |
Japanese Encephalitis |
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Increased circulating IgM level, Infectious encephalitis, Increased circulating antibody level |
ORPHA:79139 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Recurrent respiratory infections, Eczema, Camptodactyly of finger, Keratitis, Cheil... |
ORPHA:2273 |
Dubowitz Syndrome |
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Decreased circulating IgG level, Eczema, Otitis media, Decreased circulating IgA level |
OMIM:223370 |
Cysticercosis |
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Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Viss Syndrome |
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Chronic gastritis, Eczema, Increased circulating IgE level, Atopic dermatitis, Increased circulat... |
OMIM:619472 |
Alveolar Echinococcosis |
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Increased circulating antibody level, Cholangitis, Cutaneous abscess |
ORPHA:284 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Increased circulating IgM level, Decreased circulating IgG level, Conjunctivitis, Bone marrow hyp... |
ORPHA:505248 |
Trichinellosis |
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Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... |
OMIM:181000 |
Poems Syndrome |
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Increased circulating antibody level |
ORPHA:2905 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Increased circulating antibody level |
OMIM:606002 |
Al Amyloidosis |
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Increased circulating antibody level |
ORPHA:85443 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Recurrent St... |
ORPHA:642 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level |
OMIM:271510 |
Marburg Hemorrhagic Fever |
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Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Increased circula... |
ORPHA:99826 |
Gaucher Disease Type 3 |
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Increased circulating antibody level |
ORPHA:77261 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased circulating IgG level |
OMIM:618278 |
Gaucher Disease |
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Osteoarthritis, Osteomyelitis, Increased circulating antibody level, Hepatitis |
ORPHA:355 |
Yellow Fever |
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Increased circulating IgM level, Acute pancreatitis, Skin rash, Increased circulating interleukin... |
ORPHA:99829 |
Simpson-Golabi-Behmel Syndrome |
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Increased circulating IgE level |
ORPHA:373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |