Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... |
OMIM:619802 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph... |
ORPHA:277 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... |
OMIM:613101 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... |
OMIM:616005 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... |
OMIM:600802 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... |
OMIM:616050 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Schnitzler Syndrome |
|
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... |
OMIM:616100 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... |
ORPHA:158057 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:443811 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells |
OMIM:301045 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Boutonneuse Fever |
|
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:83313 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... |
OMIM:102700 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
ORPHA:90362 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia |
ORPHA:33355 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl... |
ORPHA:911 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat... |
OMIM:608233 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia |
ORPHA:158014 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia |
OMIM:300635 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Cutaneous abscess, Increased circulating IgE level |
OMIM:147060 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... |
OMIM:615816 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Immunodeficiency 51 |
|
Cutaneous abscess, Abnormal lymphocyte physiology, Abnormal lymphocyte morphology |
OMIM:613953 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... |
OMIM:615122 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Abnormal circulati... |
ORPHA:79124 |
Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:2268 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... |
ORPHA:449400 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Lymphocytosis, Iron deficiency anemia, Thrombo... |
OMIM:301074 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 47 |
|
Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, Normocytic anemia, D... |
OMIM:300972 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... |
ORPHA:508533 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 61 |
|
Agammaglobulinemia |
OMIM:300310 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari... |
OMIM:617303 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:619381 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural killer cell activ... |
OMIM:603553 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:612301 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Autoimmune... |
OMIM:301080 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... |
ORPHA:91139 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... |
ORPHA:90363 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki... |
ORPHA:158048 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Bloom Syndrome |
|
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... |
ORPHA:125 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt... |
OMIM:620005 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... |
OMIM:615952 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Tularemia |
|
Increased circulating antibody level, Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thr... |
ORPHA:3392 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatosplenomegaly, Decreased c... |
ORPHA:79330 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
Roifman Syndrome |
|
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly |
ORPHA:353298 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... |
OMIM:208900 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia |
OMIM:618428 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... |
ORPHA:297 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly |
ORPHA:3162 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Good Syndrome |
|
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level |
ORPHA:169105 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... |
ORPHA:3226 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia |
OMIM:614038 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:617591 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... |
ORPHA:1572 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun... |
OMIM:242900 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Leukopenia, Hepatosplenomegaly, Increased circulating IgM level,... |
ORPHA:505248 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
Rift Valley Fever |
|
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:319251 |
Tempi Syndrome |
|
Polycythemia, Increased circulating IgG level, Increased hematocrit |
ORPHA:284227 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
ORPHA:83471 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thromb... |
OMIM:615934 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... |
OMIM:210900 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level |
OMIM:619750 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Lymphopenia, Neutropenia |
OMIM:616395 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... |
OMIM:617388 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc... |
OMIM:251260 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol... |
ORPHA:330015 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:2314 |
Thymoma |
|
Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a... |
ORPHA:99867 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Brucellosis |
|
Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increase... |
ORPHA:1304 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells, Panhypogammaglobulinemia |
OMIM:307200 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... |
ORPHA:77259 |
Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... |
OMIM:242840 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunog... |
ORPHA:33226 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Japanese Encephalitis |
|
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level |
ORPHA:79139 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... |
ORPHA:293978 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Decreased circulating antibody level, Iron deficiency anemia |
OMIM:226300 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... |
ORPHA:449432 |
Prolidase Deficiency |
|
Increased circulating antibody level, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Circulating immune complexes |
OMIM:607665 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Lymphopenia |
OMIM:158350 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia |
ORPHA:83617 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:37042 |
Autoimmune Polyendocrinopathy Type 4 |
|
Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul... |
ORPHA:227990 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:260920 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Neutrophilia, Leukocytosis, Splenomegaly |
ORPHA:829 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Thrombocytopenia, Increased circulating IgA level, Increased ci... |
ORPHA:79078 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly |
OMIM:248500 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Decrease... |
OMIM:615688 |
Mgat2-Cdg |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Impai... |
ORPHA:79329 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ... |
ORPHA:228123 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Impaired T cell function, Abnormal lymphocyte physiology, Abnormal proportion of nai... |
ORPHA:1830 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Leukemia |
OMIM:208910 |
Autoimmune Polyendocrinopathy Type 3 |
|
Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul... |
ORPHA:227982 |
Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ... |
ORPHA:99827 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa... |
OMIM:614576 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... |
ORPHA:508542 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Brain abscess, Neutrophilia |
ORPHA:54251 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Decreased circulating IgG level, Leukocytosis, Anisocytosis, H... |
OMIM:618278 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Increased circulating IgM level |
ORPHA:186 |
Mevalonic Aciduria |
|
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Increa... |
OMIM:610377 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:420741 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia |
ORPHA:329918 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:127550 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia |
OMIM:607944 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Thrombocytop... |
OMIM:613989 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia |
OMIM:613385 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi... |
ORPHA:289390 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean pla... |
ORPHA:84064 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:77261 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level |
OMIM:300953 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly |
ORPHA:171 |
Thymic Tumor |
|
Dysgammaglobulinemia |
ORPHA:100100 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... |
ORPHA:284 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Increased circulating antibody level |
ORPHA:2905 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Eosinophi... |
ORPHA:449395 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Microangio... |
ORPHA:93552 |
Hennekam Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
ORPHA:2136 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Complement deficiency, Eosinophilia |
ORPHA:449427 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level |
OMIM:606056 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level |
ORPHA:449563 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia |
ORPHA:99843 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
Q Fever |
|
Increased circulating antibody level, Splenomegaly, Cryoglobulinemia, Hepatosplenomegaly, Granulo... |
ORPHA:781 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphopenia, Splenomegaly |
ORPHA:549 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Insulin-Resistance Syndrome Type B |
|
Decreased serum complement factor B, Increased circulating IgA level, Leukopenia, Increased circu... |
ORPHA:2298 |
Nephrotic Syndrome, Type 14 |
|
Lymphopenia |
OMIM:617575 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
Al Amyloidosis |
|
Increased circulating antibody level, Anemia, Howell-Jolly bodies |
ORPHA:85443 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |