Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Allergic rhinitis |
OMIM:147050 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... |
OMIM:300400 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Immunodeficiency 20 |
|
Wheezing, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural killer cell act... |
OMIM:615707 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp... |
OMIM:618108 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... |
OMIM:617638 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:300310 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decrea... |
OMIM:619752 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Increased circulating IgE level, Recurrent pneumonia, Lack of T cell function, Abnorma... |
ORPHA:277 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Incre... |
OMIM:243700 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Recurre... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Decreased proportion of naive ... |
ORPHA:276 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... |
OMIM:312863 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased circulatin... |
OMIM:618394 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increase... |
OMIM:209950 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ... |
OMIM:616005 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Increased circulating IgE level, Wheezing, Asthma, Leukoc... |
ORPHA:2902 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Bronchiectasis |
OMIM:618523 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Pneumonia |
OMIM:269840 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectas... |
OMIM:616100 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... |
OMIM:620210 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Interstitial pneumonitis, Decreased proportion of class-switched... |
OMIM:614878 |
Sneddon Syndrome |
|
Mental deterioration, Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia, Cutaneous abscess |
OMIM:147060 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Boutonneuse Fever |
|
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia... |
ORPHA:83313 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Asthma, Increased circulating IgE level, Hypereosinophilia, Inc... |
ORPHA:449400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Schnitzler Syndrome |
|
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia |
ORPHA:37748 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Sinusitis, Severe B lymphocytopenia, Pneumonia, A... |
OMIM:102700 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Sterile absce... |
OMIM:618282 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circ... |
OMIM:615577 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Tachypnea, Increased circulating IgG level, Leukopenia, Thromboc... |
OMIM:615934 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis,... |
OMIM:240500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
Aspergillosis |
|
Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Increased circulating IgE level, Chronic pul... |
ORPHA:1163 |
Netherton Syndrome |
|
Allergic rhinitis, Asthma, Increased circulating IgE level, Hypereosinophilia, Chronic rhinitis, ... |
OMIM:256500 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulat... |
OMIM:618495 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Respiratory insufficiency, Decreased circulating antibody level |
OMIM:618042 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency 23 |
|
Hemolytic anemia, Allergic rhinitis, Abscess, Eosinophilia, Asthma, Increased circulating IgE lev... |
OMIM:615816 |
Lead Poisoning |
|
Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy... |
ORPHA:330015 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... |
ORPHA:436159 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Chronic neutropenia, Autoimmune thrombocyto... |
OMIM:614700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169160 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Decreased lymphocyte proliferation in response to anti-CD3, Abnorm... |
ORPHA:221139 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Agammaglobulinemia, X-Linked |
|
Wheezing, Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Decreased circulating total Ig... |
OMIM:300755 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... |
ORPHA:158057 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:616576 |
Immunodeficiency 54 |
|
Splenomegaly, Respiratory failure, Reduced natural killer cell count, Respiratory insufficiency |
OMIM:609981 |
Immunodeficiency 92 |
|
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... |
OMIM:619652 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... |
OMIM:613101 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Netherton Syndrome |
|
Asthma, Emphysema, Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Progressive neurologic deterioration, Monoclonal immunog... |
ORPHA:91139 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Lassa Fever |
|
Dyspnea, Increased circulating IgM level, Cough |
ORPHA:99824 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Chilblain Lupus |
|
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Decreased circulating antibody level, Hepatosplenom... |
ORPHA:79330 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Dec... |
ORPHA:331235 |
Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Confusion, Thrombocytopenia, Leukocytosis, Increa... |
ORPHA:3392 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Progressive neurologic deterioration, Decreased circulating antibody level |
ORPHA:85317 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... |
OMIM:615559 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia, Cough |
ORPHA:2314 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Reticular Dysgenesis |
|
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circulating total IgM, Restrictive v... |
ORPHA:420741 |
Immunodeficiency 32B |
|
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... |
OMIM:608233 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level |
OMIM:301045 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thromboc... |
ORPHA:572 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis |
OMIM:300635 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circulating ... |
OMIM:617303 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia |
ORPHA:171442 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating... |
OMIM:607143 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Decreased c... |
OMIM:615122 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... |
OMIM:612301 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, De... |
ORPHA:79124 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Xq28 (MECP2) duplication |
|
Depression, Decreased circulating IgA level |
DECIPHER:45 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Rasmussen Subacute Encephalitis |
|
Emotional lability, Irritability, Cognitive impairment, Attention deficit hyperactivity disorder,... |
ORPHA:1929 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Thr... |
OMIM:620005 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Abscess, Chronic... |
ORPHA:125 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Bronchiectasis, Decreased circulating total IgM, Leukemia, Decreased cir... |
OMIM:210900 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Tick-Borne Encephalitis |
|
Leukocytosis, Depression, Increased circulating IgG level, Increased circulating IgM level, Dimin... |
ORPHA:297 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Liver abscess, Pneumonia, Allergic rhinitis, Asthma, Recurrent pneumonia, Bronchiectasis, Decreas... |
ORPHA:183675 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgA lev... |
ORPHA:2298 |
Ataxia-Telangiectasia |
|
Lymphopenia, Cognitive impairment, Decreased circulating antibody level |
ORPHA:100 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Pneumonia, Splenomegaly, ... |
OMIM:619381 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Spleno... |
ORPHA:37042 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Increased circulating IgM level, Respiratory paralysis, Incre... |
ORPHA:79139 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Thrombocytopenia, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Thrombocytopenia, Hepatosplenomegaly, Stridor, Increased circulating IgM le... |
ORPHA:505248 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Trichinellosis |
|
Memory impairment, Irritability, Increased circulating IgE level, Confusion |
ORPHA:863 |
Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respira... |
ORPHA:33226 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibod... |
OMIM:619750 |
Ebola Hemorrhagic Fever |
|
Dyspnea, Leukopenia, Increased circulating antibody level, Cough, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiect... |
OMIM:615468 |
Encephalitis Lethargica |
|
Mental deterioration, Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Decr... |
ORPHA:353298 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Asthma, Allergic rhinitis |
OMIM:618162 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Cough, Bronchiectasis, Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Prolidase Deficiency |
|
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Increased circ... |
OMIM:170100 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Abscess, Eosinophilia, Abnormality of the spleen, Increased circ... |
ORPHA:228123 |
Thymoma |
|
Aplastic anemia, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Pure red cell... |
ORPHA:99867 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Brucellosis |
|
Liver abscess, Lung abscess, Pneumonia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:1304 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Bronchiectasis, Acute lymphoblastic leuk... |
OMIM:208900 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Depression |
ORPHA:2137 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Dementia, Attention deficit hyperactivity disorder, Aspiration pneumonia, Men... |
ORPHA:52368 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... |
OMIM:301074 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... |
ORPHA:1572 |
Rift Valley Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Postinfectious Vasculitis |
|
Pneumonia, Increased circulating IgA level, Abnormality of humoral immunity, Increased circulatin... |
ORPHA:48435 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Confusion, Increased circulating IgG4 level, Eosinophilia, Dyspnea, Mental deteriorati... |
ORPHA:449427 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... |
ORPHA:158061 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Short attention span, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Immunodeficiency 56 |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis |
OMIM:615207 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... |
ORPHA:381 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Dyspnea, Thrombocytopenia, Abnormal T cell morpholog... |
OMIM:242900 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Childhood Absence Epilepsy |
|
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperventilation |
ORPHA:64280 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Recurrent pneumonia, Agammagl... |
ORPHA:47 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia, Cognitive impairment |
ORPHA:935 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Reduced forced expiratory volume in one second, Hypersplenism, Splenomegaly, Chroni... |
OMIM:613385 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis,... |
OMIM:226300 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Decreased circulating IgA level |
ORPHA:457485 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... |
ORPHA:540 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Depression, Decreased circulating antibody level |
OMIM:604928 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Pitt-Hopkins-Like Syndrome 1 |
|
Attention deficit hyperactivity disorder, Progressive language deterioration, Impaired social int... |
OMIM:610042 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Epistaxis, Confusion, Splenomegaly, Leukocytosis, Emotional lability,... |
ORPHA:99827 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, ... |
OMIM:618131 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... |
ORPHA:77259 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Hsd10 Disease |
|
Short attention span, Abnormal social behavior |
ORPHA:391417 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Polyclonal elevatio... |
ORPHA:171 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... |
OMIM:618278 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Depression, Attention deficit hyperactivity disorder, Cognitive impairment, Hyperventilation |
ORPHA:98784 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Irritability, Apnea, Hyperventilation |
OMIM:229700 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Depression, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA ... |
OMIM:212750 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphocytic interstitial pneumonia, Nonproductive cough, Decreased proportion ... |
ORPHA:289390 |
Cystic Echinococcosis |
|
Abscess, Eosinophilia, Asthma, Increased circulating antibody level, Splenic cyst, Peritoneal abs... |
ORPHA:400 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok... |
ORPHA:158048 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Panhypogammaglobulinemia, Pneumonia, Absent circulating B cells |
OMIM:307200 |
Liver Failure, Infantile, Transient |
|
Irritability, Decreased circulating IgG level |
OMIM:613070 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Recurrent pneumonia, Bronchiectasis, Abnormal neutrophil morphology, Decrea... |
ORPHA:51636 |
Mgat2-Cdg |
|
Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circu... |
ORPHA:79329 |
Poems Syndrome |
|
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect,... |
ORPHA:2905 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Dementia, Increased circulating antibody level, Pulmonary art... |
ORPHA:77261 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
Cysticercosis |
|
Confusion, Emotional lability, Dementia, Increased circulating antibody level, Mental deteriorati... |
ORPHA:1560 |
Okur-Chung Neurodevelopmental Syndrome |
|
Attention deficit hyperactivity disorder, Decreased circulating IgG level, Decreased circulating ... |
OMIM:617062 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating IgA level |
OMIM:613327 |
Q Fever |
|
Respiratory distress, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pleural effu... |
ORPHA:781 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Scleromyxedema |
|
Paraproteinemia, Exertional dyspnea |
ORPHA:167635 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Chronic pulmonary obstruction |
ORPHA:439232 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Dyspnea, Abnormal spleen morphology, Increased circulating antibody ... |
ORPHA:284 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumonia, Bronchiectasis, Decre... |
ORPHA:293978 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Decreased circulating antibody level, Hepatosplenomegal... |
OMIM:615688 |
Al Amyloidosis |
|
Howell-Jolly bodies, Dyspnea, Nonproductive cough, Increased circulating antibody level, Anemia |
ORPHA:85443 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Dyspnea, Splenomegaly, Bronchiectasis, Hypoxemia,... |
OMIM:181000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Viss Syndrome |
|
Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypereosinophilia, Increased circ... |
OMIM:619472 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level |
OMIM:248500 |
Dubowitz Syndrome |
|
Short attention span, Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG le... |
OMIM:223370 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp... |
OMIM:610377 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... |
OMIM:251260 |
Lysinuric Protein Intolerance |
|
Thrombocytopenia, Respiratory insufficiency, Decreased circulating antibody level, Hepatosplenome... |
ORPHA:470 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... |
OMIM:242840 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Asthma, Irritability, Attention deficit hyperactivity disorder, Abnormal soci... |
ORPHA:96263 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Irritability, A... |
ORPHA:348 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227990 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Rett Syndrome |
|
Motor deterioration, Apnea, Intermittent hyperventilation |
OMIM:312750 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Mental deterioration, Progressive language deterioration, Intermittent hyperventilation, Low frus... |
ORPHA:163681 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
Hennekam Syndrome |
|
Splenomegaly, Respiratory insufficiency, Decreased circulating antibody level, Chylothorax, Lymph... |
ORPHA:2136 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227982 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Decreased circulating IgG level |
OMIM:601675 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pleural effusion, Decreased circulating antibody level |
OMIM:618183 |
Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Decreased circulating antibody level, Cognitive impairment, Neutropeni... |
ORPHA:175 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Bronchospasm, Neutropenia, Reduced social re... |
ORPHA:33364 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia, Hyperventilation |
OMIM:618775 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Pneumonia, Thrombocytopenia, Splenomegaly, Irritability, Increase... |
OMIM:615846 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Cognitive imp... |
OMIM:222470 |
Cholera |
|
Irritability, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Confusion, Nonproductive cough, Neutrophilia in presence of infecti... |
ORPHA:99826 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia, Irritability, Apnea, Hyperventilation |
OMIM:617799 |
Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Depression, Increased ci... |
ORPHA:355 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... |
ORPHA:84064 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Microcytic anemia, Leukocytosis, Recurrent pneumonia, Anemia, Abnormal isohemagglut... |
ORPHA:99843 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Mania, Delirium, Hyperventilation |
ORPHA:90068 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Bone-marrow foam cells, Splenomegaly, Respiratory insuffici... |
ORPHA:646 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Acute Liver Failure |
|
Confusion, Abnormal respiratory system physiology, Depression, Euphoria, Hypocapnia, Emotional la... |
ORPHA:90062 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Attention deficit hyperactivity disorder, Hyperventilation |
OMIM:618050 |
Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormal social behavior, Irritability, Abnor... |
ORPHA:1675 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... |
OMIM:274000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Anemia, Decreased circulating antibody level |
ORPHA:247598 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Attention deficit hyperactivity disorder, Abnormal social behavior, Impaire... |
ORPHA:177907 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
Pitt-Hopkins Syndrome |
|
Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Depression, Respiratory failure, Attention deficit hyperactivity disorder, ... |
ORPHA:805 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Inappropriate laughter, Attention deficit hyperactivity disorder, Tracheomalacia, Abnormal social... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Inappropriate laughter, Attention deficit hyperactivity disorder, Tracheomalacia, Abnormal social... |
ORPHA:363958 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Decreased circulating IgG level, Secretory IgA deficiency, Emphysema |
ORPHA:500150 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Mowat-Wilson Syndrome |
|
Asplenia, Impaired social interactions, Decreased circulating antibody level |
ORPHA:2152 |
Williams Syndrome |
|
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Overfriendliness |
ORPHA:904 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Decreased circulating antibody level |
ORPHA:261552 |
Pallister-Killian Syndrome |
|
Apneic episodes in infancy, Hyperventilation |
OMIM:601803 |