Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... |
OMIM:619773 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... |
ORPHA:277 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... |
OMIM:617638 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count... |
ORPHA:98813 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ... |
ORPHA:2902 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... |
OMIM:618459 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I... |
OMIM:256500 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota... |
OMIM:619510 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ... |
ORPHA:449400 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Dyspnea, Asthma, Increased circulat... |
ORPHA:1163 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Abs... |
OMIM:615816 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... |
ORPHA:158061 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... |
ORPHA:70578 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... |
OMIM:618048 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve... |
OMIM:618986 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circu... |
ORPHA:2314 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
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-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... |
OMIM:614069 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Increased circulating IgG level, Respiratory failure, Increas... |
ORPHA:83313 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ... |
OMIM:301000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Decreas... |
OMIM:615559 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Partial absence o... |
OMIM:618261 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col... |
ORPHA:37042 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:615758 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ... |
OMIM:616005 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... |
OMIM:601457 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent skin... |
OMIM:620210 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis... |
ORPHA:544482 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Pustule, ... |
OMIM:615934 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... |
ORPHA:101096 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... |
OMIM:300635 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia... |
ORPHA:3392 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Abnormal natural ... |
OMIM:613101 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Lead Poisoning |
|
Skin rash, Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal res... |
ORPHA:330015 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:613011 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp... |
OMIM:301078 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Respiratory insufficiency, Decrease... |
OMIM:618042 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia |
ORPHA:37748 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... |
OMIM:209920 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... |
OMIM:615122 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Leukopenia, Increased ci... |
ORPHA:319218 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
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, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Asthma, Recurrent pneumonia, Onych... |
OMIM:615577 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Inc... |
ORPHA:449432 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig... |
OMIM:617744 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Prolidase Deficiency |
|
Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting erythematous de... |
OMIM:170100 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG l... |
ORPHA:183675 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c... |
ORPHA:2137 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Recurrent infections, Anemia, Arthritis, Panniculit... |
OMIM:617591 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod... |
OMIM:301045 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia |
ORPHA:171442 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... |
ORPHA:449395 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... |
ORPHA:158057 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Dyspnea, Lymphadenitis, Complement def... |
ORPHA:449427 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... |
OMIM:615952 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Myeli... |
ORPHA:297 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level |
ORPHA:100 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Keratitis, Orchitis, Incr... |
ORPHA:449563 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious encep... |
ORPHA:1304 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct... |
OMIM:613179 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... |
ORPHA:448237 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra... |
ORPHA:228123 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul... |
ORPHA:329918 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok... |
ORPHA:158048 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchiectasis, Hepatiti... |
ORPHA:391487 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent... |
OMIM:617303 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,... |
OMIM:605309 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Increased circulat... |
ORPHA:77259 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Bronchiectasis, Ac... |
OMIM:208900 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Malar rash, Leukopenia, Decreased circulating complement C3 concentr... |
OMIM:301080 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM... |
ORPHA:319251 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Bloom Syndrome |
|
Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce... |
ORPHA:125 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re... |
OMIM:619164 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia |
OMIM:617425 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... |
OMIM:615207 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Dyspnea, Abnormal T cell morpholog... |
OMIM:242900 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, T... |
OMIM:615518 |
Lassa Fever |
|
Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... |
ORPHA:2298 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Erythroderma, Abnormal immunoglobulin level |
ORPHA:3162 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Asthma, Membranous nephropathy, Increased circulating antibody level, Sple... |
ORPHA:400 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Thrombocyt... |
ORPHA:781 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearanc... |
ORPHA:90051 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Reduced forced expiratory volume in one second, H... |
OMIM:613385 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Decreased circulating antibody ... |
ORPHA:79330 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Anisocytosis, Leukocytosis, ... |
OMIM:618278 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abscess formation, P... |
OMIM:619381 |
Encephalitis Lethargica |
|
Recurrent viral infections, Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... |
OMIM:620040 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosi... |
OMIM:610377 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:615688 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Chronic lung disease, Severe B lymphocytopenia, Acute respiratory ... |
OMIM:620005 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Nonproductive cough, Leukopenia, Tubuloint... |
ORPHA:289390 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Parotitis, Epistaxis, Acute pancreatitis, Erythema nodosum, Splenomeg... |
ORPHA:99827 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... |
OMIM:612301 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Dyspnea, Abnormal spleen morphology, Increased circulat... |
ORPHA:284 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... |
OMIM:210900 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr... |
OMIM:612132 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Recurrent pharyng... |
ORPHA:829 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomeg... |
ORPHA:505248 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Riddle Syndrome |
|
Pneumonia, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Decreased circulat... |
ORPHA:420741 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... |
ORPHA:90363 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Recurren... |
ORPHA:2686 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... |
ORPHA:1493 |
Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta... |
OMIM:181000 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Recurrent upper respiratory tract infections, Decrease... |
OMIM:607143 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Decreased circu... |
ORPHA:79329 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent viral i... |
ORPHA:293978 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Abnormal isohemagglutinin... |
ORPHA:99843 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Myocarditis, Recurrent pharyngitis, Hepatitis, Respiratory insufficie... |
ORPHA:549 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Increased circulating IgM level, Respiratory paralysis, Incre... |
ORPHA:79139 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... |
ORPHA:77261 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
Cowden Syndrome 1 |
|
Lymphopenia, Recurrent infections, Thyroiditis, Decreased circulating antibody level |
OMIM:158350 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas... |
ORPHA:79078 |
Igg4-Related Thyroid Disease |
|
Thyroiditis, Sclerosing cholangitis, Hashimoto thyroiditis, Increased circulating IgG4 level |
ORPHA:64744 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, St... |
OMIM:212750 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Decreased circulating IgA level |
ORPHA:457485 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Al Amyloidosis |
|
Howell-Jolly bodies, Dyspnea, Nonproductive cough, Increased circulating antibody level, Anemia |
ORPHA:85443 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypere... |
OMIM:619472 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Thrombocytopenia, Respiratory insufficiency, Decreased circulating antibody l... |
ORPHA:470 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S... |
ORPHA:91500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegal... |
OMIM:615846 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Minimal change glomerulonephritis, Thro... |
ORPHA:1830 |
Scleromyxedema |
|
Paraproteinemia, Exertional dyspnea |
ORPHA:167635 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Productive cough, Maculop... |
ORPHA:228119 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level |
OMIM:613327 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, L... |
ORPHA:99829 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... |
OMIM:614162 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... |
ORPHA:3132 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Dyspnea, Malar rash, Leukopenia, Arthritis, Decreased ci... |
ORPHA:93552 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Recurrent infections, Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG... |
OMIM:601675 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
ORPHA:86816 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Chronic pulmonary obstruction |
ORPHA:439232 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Nonprod... |
ORPHA:99826 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Asthma, Eczema, Allergic rhinitis |
OMIM:618162 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Decreased circulating ... |
ORPHA:2136 |
Relapsing Fever |
|
Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Cough, Thrombocytopenia |
ORPHA:91547 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Hepatitis, Gastrointestinal inflammation, Increased circulating ... |
ORPHA:186 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblastic leukemia, Otitis media, Decrea... |
OMIM:223370 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... |
ORPHA:171 |
Syndromic Diarrhea |
|
Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent infections, Colitis, Hypoplasi... |
ORPHA:84064 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory insufficiency, ... |
ORPHA:355 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Sto... |
OMIM:612852 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Rest... |
OMIM:607944 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A... |
OMIM:617053 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infi... |
ORPHA:83617 |
Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Cheilitis, Uveitis, Sepsis, Arthritis, Palmoplantar pustulosis, Erythroder... |
ORPHA:247353 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... |
OMIM:617827 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis... |
ORPHA:3260 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator... |
ORPHA:258 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress, Recurrent infections |
OMIM:618922 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's... |
OMIM:249100 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Inflammatory abnormality of the skin |
OMIM:610768 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Episodic respiratory distress, Chronic pu... |
ORPHA:1199 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
Ogden Syndrome |
|
Apnea, Eczema, Recurrent infections, Iron deficiency anemia, Pulmonary arterial hypertension, Res... |
OMIM:300855 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent urinary tract infections, Recurrent upper respiratory... |
ORPHA:404448 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration, Recurrent respiratory infections |
OMIM:619777 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration, Esophagitis |
ORPHA:96182 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Recurrent infections, Respiratory failure, Emphysema, Decreased circula... |
ORPHA:500150 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Neonatal respiratory distress, Apnea, Asthma, Atopic dermatitis, Hepatosplenome... |
OMIM:619503 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Apnea |
ORPHA:98889 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353277 |