| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... |
OMIM:611521 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... |
OMIM:619374 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... |
OMIM:618204 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... |
OMIM:312863 |
| Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections |
OMIM:615206 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... |
OMIM:618944 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... |
OMIM:605258 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... |
OMIM:618982 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... |
OMIM:618987 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... |
OMIM:153600 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... |
OMIM:613500 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... |
OMIM:610163 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... |
OMIM:613495 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells |
OMIM:615607 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... |
OMIM:608203 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... |
OMIM:308220 |
| Candidiasis, Familial, 2 |
|
Hypereosinophilia, Increased circulating IgE level |
OMIM:212050 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... |
OMIM:613493 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lymphopenia,... |
ORPHA:277 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure |
ORPHA:46532 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia |
OMIM:602450 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... |
OMIM:137100 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... |
OMIM:614699 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Transcobalamin Deficiency |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... |
ORPHA:859 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Immunodeficiency, Common Variable, 14 |
|
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:617765 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... |
ORPHA:276 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... |
OMIM:619281 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... |
OMIM:300400 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:616050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity |
OMIM:608898 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... |
OMIM:614470 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... |
OMIM:613501 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... |
OMIM:267500 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:611926 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level |
ORPHA:217390 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... |
OMIM:618969 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... |
OMIM:613179 |
| Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... |
OMIM:618394 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... |
OMIM:102700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... |
OMIM:618534 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly |
OMIM:619126 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... |
OMIM:150550 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... |
ORPHA:331206 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level |
OMIM:300636 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Immune Deficiency Disease |
|
Decreased circulating total IgM, Recurrent viral infections, Recurrent bacterial infections |
OMIM:242850 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent ... |
OMIM:612692 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, ... |
OMIM:613502 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Eosinophilia |
OMIM:147060 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... |
OMIM:619220 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... |
OMIM:615559 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:601859 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration |
ORPHA:89844 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... |
ORPHA:443811 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... |
ORPHA:449400 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... |
ORPHA:35078 |
| Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... |
OMIM:606367 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia |
ORPHA:2688 |
| X-Linked Lymphoproliferative Disease |
|
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... |
ORPHA:2442 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... |
OMIM:308230 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... |
OMIM:304790 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... |
ORPHA:79303 |
| Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Reduced natural killer cell count, Absent platelet dense granules,... |
OMIM:608233 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly |
OMIM:618495 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Lymph node hypoplasia, Agammaglobulinemia |
OMIM:300755 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... |
OMIM:603554 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... |
ORPHA:2585 |
| Netherton Syndrome |
|
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... |
OMIM:600903 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... |
OMIM:313900 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:144120 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia |
OMIM:601495 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... |
OMIM:300853 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... |
ORPHA:3261 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Lymphopenia, ... |
OMIM:615816 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... |
OMIM:240500 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... |
OMIM:237800 |
| Sebastian syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:605249 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, B lymphoc... |
ORPHA:221139 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... |
OMIM:301000 |
| Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... |
ORPHA:811 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... |
ORPHA:169160 |
| Immunodeficiency 27A |
|
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... |
OMIM:209950 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Recurrent infections, Increased circulating IgE level |
OMIM:618985 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... |
ORPHA:572 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level, Recurrent respiratory infections |
OMIM:618042 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... |
OMIM:617780 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Recurrent fractures, Splenomegaly |
ORPHA:417 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... |
OMIM:618849 |
| Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... |
OMIM:616100 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:615085 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... |
ORPHA:79124 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Neutropenia, Anemia |
OMIM:604250 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hepatomegaly, Reduced bone mineral density, Jaundice, Splenomegaly |
ORPHA:172 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis, Frequent Giard... |
OMIM:615577 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... |
OMIM:618116 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent opportunistic infections, Recurrent gastroenteritis, Chronic oral candidiasis, Recurren... |
ORPHA:275 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Bronchiol... |
OMIM:614878 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... |
ORPHA:79301 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... |
ORPHA:911 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... |
OMIM:613101 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density |
OMIM:241520 |
| Aspergillosis |
|
Increased circulating IgE level, Neutropenia, Eosinophilia |
ORPHA:1163 |
| Immunodeficiency 47 |
|
Decreased circulating antibody level, Leukopenia, Splenomegaly |
OMIM:300972 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... |
OMIM:618213 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... |
ORPHA:3132 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia |
OMIM:618107 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... |
ORPHA:86843 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... |
OMIM:611490 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Immunodeficiency 36 |
|
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly |
OMIM:616005 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Schnitzler Syndrome |
|
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly |
ORPHA:37748 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
| Transcobalamin Ii Deficiency |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:275350 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... |
ORPHA:507 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly |
OMIM:242700 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... |
OMIM:613011 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... |
ORPHA:449432 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... |
ORPHA:508533 |
| Mirage Syndrome |
|
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen |
OMIM:617053 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... |
ORPHA:760 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... |
OMIM:617099 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, B... |
OMIM:231095 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... |
OMIM:612840 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia |
ORPHA:514 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Indolent Systemic Mastocytosis |
|
Osteoporosis, Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast... |
ORPHA:98848 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... |
ORPHA:846 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis |
OMIM:228000 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
| Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
| Ataxia-Telangiectasia |
|
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... |
OMIM:208900 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... |
ORPHA:101096 |
| Lead Poisoning |
|
Increased circulating IgE level, Abnormality of humoral immunity, Abnormal T cell morphology, Imb... |
ORPHA:330015 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612690 |
| Cryohydrocytosis |
|
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis |
OMIM:615415 |
| Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... |
ORPHA:37042 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Anemia of inadequate production, Anemi... |
OMIM:612714 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... |
ORPHA:331235 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... |
ORPHA:508542 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... |
OMIM:300291 |
| Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
| Stormorken Syndrome |
|
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia |
OMIM:185070 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... |
OMIM:614700 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis |
OMIM:616084 |
| Netherton Syndrome |
|
Decreased circulating antibody level, Increased circulating IgE level |
ORPHA:634 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Reduced b... |
ORPHA:1414 |
| Thymoma |
|
Pancytopenia, Abnormal lymphocyte morphology, B lymphocytopenia, Hemolytic anemia |
ORPHA:99867 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... |
ORPHA:3226 |
| Leukocyte Adhesion Deficiency |
|
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... |
ORPHA:2968 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, ... |
ORPHA:848 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly,... |
ORPHA:2785 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... |
OMIM:616860 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:88 |
| Tularemia |
|
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Anemia, ... |
ORPHA:3392 |
| Nephronophthisis 19 |
|
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation |
OMIM:616217 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... |
OMIM:222800 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodular cirrhosis, Ne... |
ORPHA:699 |
| Boutonneuse Fever |
|
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... |
OMIM:616689 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Iga Pemphigus |
|
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... |
ORPHA:555905 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... |
OMIM:208540 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia |
ORPHA:293978 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Increased circulating IgG level, Splenomegaly, In... |
OMIM:617388 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... |
ORPHA:449395 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... |
ORPHA:227990 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... |
OMIM:269200 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... |
ORPHA:766 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... |
OMIM:617394 |
| Beta-Thalassemia Intermedia |
|
Osteoporosis, Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Elevated hepatic iron concent... |
ORPHA:231222 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... |
OMIM:618935 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... |
OMIM:235700 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Nijmegen Breakage Syndrome |
|
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:617062 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... |
OMIM:616278 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... |
ORPHA:227982 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, An... |
OMIM:615934 |
| Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
| Gamma-Heavy Chain Disease |
|
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnor... |
ORPHA:100026 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... |
OMIM:613470 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Giant cell hepatitis, Rickets, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... |
OMIM:607765 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
| Gaucher Disease Type 1 |
|
Cirrhosis, Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Hepatomega... |
ORPHA:77259 |
| Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia |
ORPHA:2268 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... |
OMIM:602347 |
| Immunodeficiency 49 |
|
Lymphopenia, Eosinophilia |
OMIM:617237 |
| Angiostrongyliasis |
|
Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosinophilia, ... |
ORPHA:74 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... |
ORPHA:98849 |
| Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Eosinophilia |
ORPHA:449563 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Liver abscess, Anemia |
ORPHA:54251 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617591 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology |
OMIM:618223 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Flexion contracture, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... |
OMIM:109270 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Asplenia |
OMIM:619123 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... |
OMIM:214500 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Periostitis, Hepatomegaly, Splenomegaly, Neutrophilia, Osteopenia, Fused cervical ver... |
OMIM:612852 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In... |
OMIM:260920 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
| Microgastria-Limb Reduction Defects Association |
|
Biliary tract abnormality, Polymicrogyria, Asplenia, Absent gallbladder, Splenogonadal fusion |
OMIM:156810 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
