Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count, Chronic decreased ... |
OMIM:613495 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Autoimmunity, Impaired lymphocyte transformation ... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc... |
OMIM:601859 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope... |
ORPHA:169079 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... |
OMIM:614470 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Increased circulating IgE level, Lymphopenia, Autoimmunity, Anti-thyroid... |
ORPHA:277 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... |
OMIM:603909 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Antinuclear antibody positivity, Increased circulating interleukin 8 concentration, Incre... |
OMIM:620514 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... |
OMIM:616005 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... |
ORPHA:411593 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... |
ORPHA:540 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto... |
OMIM:615010 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Increased circu... |
OMIM:618495 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Autoimmunity, Macrocytic anemi... |
OMIM:617780 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Mo... |
OMIM:616871 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... |
ORPHA:178320 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... |
ORPHA:275 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
Activated Pi3K-Delta Syndrome |
|
Autoimmunity, Splenomegaly, B lymphocytopenia, Decreased circulating antibody level, Increased ci... |
ORPHA:397596 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport... |
OMIM:615758 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Autoimmunit... |
ORPHA:449400 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... |
ORPHA:158057 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... |
ORPHA:79124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid factor positive |
ORPHA:85435 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmunity, Autoimmune hemolytic anem... |
OMIM:615952 |
Interstitial Cystitis |
|
Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:37202 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... |
ORPHA:99867 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Rheumatoid factor positive, Hepatosplenomegaly... |
OMIM:620376 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Autoimmunity |
ORPHA:363558 |
Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... |
ORPHA:227990 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... |
ORPHA:227982 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:542323 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration |
ORPHA:319552 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating interferon-gam... |
ORPHA:391487 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Thrombocytopenia, Incr... |
ORPHA:544482 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration |
ORPHA:69665 |