Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Specific Granule Deficiency 1 |
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Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... |
OMIM:614470 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
Platelet Signal Processing Defect |
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Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... |
OMIM:619267 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... |
ORPHA:482 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia |
OMIM:212050 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
Immunodeficiency 17 |
|
Failure to thrive, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurren... |
OMIM:615607 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... |
ORPHA:169154 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... |
ORPHA:331206 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Recurrent viral infections, Impaired platelet aggregation |
OMIM:617443 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... |
ORPHA:169160 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Abnormal mitral valve morphology |
ORPHA:903 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis |
OMIM:266265 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... |
OMIM:273800 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymp... |
ORPHA:277 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... |
OMIM:607850 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections |
OMIM:114580 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... |
OMIM:607271 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Eosinophilia |
OMIM:147060 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Immunodeficiency 46 |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... |
OMIM:616740 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... |
OMIM:102700 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Diabetes mellitus, Abnormality of the thyroid gland |
ORPHA:542592 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233710 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Eosinophilia |
OMIM:248100 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute myeloid leukemia, Prolonged bleeding time, Abnormal alpha g... |
OMIM:601399 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... |
OMIM:209920 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Roifman Syndrome |
|
Lymphadenopathy, Hypogonadotropic hypogonadism, Decreased circulating antibody level, Hepatosplen... |
ORPHA:353298 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Increased circulating IgE... |
OMIM:304790 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... |
OMIM:160800 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233690 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... |
ORPHA:33355 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Chondrocalcinosis 2 |
|
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis |
OMIM:118600 |
Hereditary Folate Malabsorption |
|
Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosin... |
ORPHA:90045 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Recurrent skin infect... |
OMIM:616576 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 55 |
|
Dry skin, Eczema, Recurrent skin infections, Neutropenia |
OMIM:617827 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Omenn Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... |
OMIM:619220 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Pyoderma gangrenosum, Abs... |
OMIM:150550 |
Immunodeficiency 20 |
|
BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract infections, R... |
OMIM:615707 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... |
OMIM:617514 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia... |
ORPHA:540 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... |
OMIM:617388 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Skin ulcer, Increased circ... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... |
ORPHA:276 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating antibody level, Hypereosinophilia, Increas... |
ORPHA:449400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae |
ORPHA:50809 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast ... |
ORPHA:98848 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal platelet granules, Prolonged bleeding time, Recurrent upper respiratory tract infections... |
OMIM:614075 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:277480 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... |
ORPHA:158061 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Increased circulating interleukin 6, Decre... |
OMIM:618944 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normochromic anemia... |
ORPHA:98849 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Reduced natural killer cell activity, Enlarged plate... |
OMIM:608233 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... |
ORPHA:3261 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... |
OMIM:231200 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Hypoplasia of the thy... |
OMIM:208900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis |
OMIM:603552 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... |
OMIM:612541 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Monocytosis |
OMIM:610680 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... |
ORPHA:3243 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... |
ORPHA:47 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... |
OMIM:615816 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormality of neutrophils |
ORPHA:111 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Leishmaniasis |
|
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... |
ORPHA:507 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Hip osteoarthritis |
OMIM:615612 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... |
OMIM:308230 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... |
OMIM:178610 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... |
OMIM:105835 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... |
ORPHA:33110 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... |
ORPHA:684 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Omenn Syndrome |
|
Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thyroiditis,... |
ORPHA:39041 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... |
OMIM:614700 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Abscess, Increased circulating antibody level, Abnormality of t... |
ORPHA:400 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Prolonged bleeding time, Mitral valve prolapse, Impaired platelet aggregation |
OMIM:193400 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Arthritis, Purpura, Lymphopenia |
OMIM:604250 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
Roifman Syndrome |
|
Lymphadenopathy, Eosinophilia, Splenomegaly |
OMIM:616651 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia, Petechiae |
OMIM:616216 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation |
OMIM:614076 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... |
OMIM:618982 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules, Ane... |
OMIM:214500 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... |
OMIM:613179 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Abnormal pancreas morphology, Increased circ... |
ORPHA:449432 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia, Hypothyroidism |
OMIM:618999 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Arthri... |
OMIM:608809 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern |
OMIM:619301 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia, Simplified gyral pattern |
OMIM:619302 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Pyoderma gangrenosum, Acne, Arth... |
OMIM:604416 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation |
ORPHA:849 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia, Ulcerative colitis |
OMIM:619398 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, EMG: myotonic runs, Percussion myotonia, Myotonia with warm-up phenomenon |
OMIM:255700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... |
ORPHA:98850 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... |
OMIM:208250 |
Classic Mycosis Fungoides |
|
Eczema, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Skin rash, Dry skin, Skin ulcer |
ORPHA:2584 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... |
OMIM:152700 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Cirrhosis, Familial |
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Increased circulating antibody level |
OMIM:118900 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Immunodeficiency 13 |
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B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Weight loss, Anemia, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
Alveolar Echinococcosis |
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Pancreatic cysts, Anemia, Abnormal spleen morphology, Increased circulating antibody level, Abnor... |
ORPHA:284 |
Obesity Due To Congenital Leptin Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Poikiloderma With Neutropenia |
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Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... |
OMIM:604173 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Transcobalamin Ii Deficiency |
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Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Idiopathic Aplastic Anemia |
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Ecchymosis, Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Th... |
ORPHA:88 |
Immunodeficiency 27A |
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Thrombocytosis, Leukocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Decreased serum thromboxane B2, Iron deficiency anemia, Abnormal circulating eicosanoid concentra... |
OMIM:618372 |
Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Dracunculiasis |
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Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:231 |
Igg4-Related Pachymeningitis |
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Lymphadenitis, Eosinophilia, Increased circulating IgG4 level, Parotitis |
ORPHA:449427 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Acute leukemia, Weight loss, Bone marrow hypocellularity, Splenomegaly, Myeloprolif... |
ORPHA:3226 |
Cyclic Neutropenia |
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Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Cervic... |
ORPHA:2686 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Felty Syndrome |
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Sinusitis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, Ab... |
ORPHA:47612 |
Mantle Cell Lymphoma |
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Weight loss, Splenomegaly |
ORPHA:52416 |
Mgat2-Cdg |
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Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Decreased circulat... |
ORPHA:79329 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Normokalemic Periodic Paralysis |
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Myotonia |
OMIM:170600 |
Immunodeficiency 37 |
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Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... |
OMIM:616098 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... |
OMIM:606367 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum ... |
OMIM:201100 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Slc35A1-Cdg |
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Neutropenia, Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Hermansky-Pudlak Syndrome 11 |
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Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Paramyotonia Congenita Of Von Eulenburg |
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Handgrip myotonia, Paradoxical myotonia, Percussion myotonia |
OMIM:168300 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Abnormal pl... |
ORPHA:167 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Neutrophilic Dermatosis, Acute Febrile |
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Cystic acne, Increased circulating interleukin 6, Pyoderma gangrenosum, Panniculitis, Acne invers... |
OMIM:608068 |
Letterer-Siwe Disease |
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Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor |
OMIM:246400 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Leukocytosis, Sepsis, Anemia, Splenomegaly, Hepatosplenomegaly, E... |
OMIM:612840 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Neutropenia |
OMIM:616949 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Imerslund-Gräsbeck Syndrome |
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Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Wolfram Syndrome, Mitochondrial Form |
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Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Familial Calcium Pyrophosphate Deposition |
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Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... |
ORPHA:1416 |
Pelger-Huet Anomaly |
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Eczema, Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platele... |
OMIM:169400 |
Muscular Dystrophy, Barnes Type |
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Myotonia |
OMIM:158800 |
Griscelli Syndrome Type 2 |
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Neutropenia, Petechiae, Splenomegaly, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
Loeffler Endocarditis |
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Eosinophilia |
ORPHA:75566 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Anemia, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphadenopathy, Eosinophilia, Lymphocytosis, Thyroiditis |
ORPHA:139402 |
Tuberculosis |
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Weight loss |
ORPHA:3389 |
Diamond-Blackfan Anemia 4 |
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Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Cardiomyopathy, Dilated, 1R |
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Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
ORPHA:90362 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
3-Methylglutaconic Aciduria, Type Viii |
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Neutropenia |
OMIM:617248 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal inflammatory response, Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, A... |
ORPHA:158048 |
Fusariosis |
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Brain abscess, Abnormality of the spleen, Sinusitis, Neutropenia, Lung abscess, Pneumonia, Bronch... |
ORPHA:228119 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Anemia, Neutropenia, Gout |
OMIM:617056 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia |
OMIM:612783 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Wolfram Syndrome 2 |
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Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Barth Syndrome |
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Granulocytopenia, Neutropenia |
OMIM:302060 |
Prolidase Deficiency |
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Eczema, Petechiae, Anemia, Splenomegaly, Crusting erythematous dermatitis, Increased circulating ... |
OMIM:170100 |
Folate Malabsorption, Hereditary |
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Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Diamond-Blackfan Anemia 11 |
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Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation |
OMIM:614077 |
Thrombocytopenia-Absent Radius Syndrome |
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Leukocytosis, Pancreatic cysts, Decreased circulating antibody level, Anemia, Hepatosplenomegaly,... |
OMIM:274000 |
Retinal Venous Beading |
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Nephritis, Neutropenia |
OMIM:180080 |
Idiopathic Achalasia |
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Weight loss, Decreased prealbumin level |
ORPHA:930 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
Congenital Enterovirus Infection |
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Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A... |
ORPHA:292 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Recurr... |
OMIM:613011 |
Vulvovaginal Gingival Syndrome |
|
Erythema, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Developmental And Epileptic Encephalopathy 66 |
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Anemia, Neutropenia |
OMIM:618067 |
Acute Promyelocytic Leukemia |
|
Ecchymosis, Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Petechiae, Anemia, Purpura, Pancyt... |
ORPHA:520 |
Late-Onset Isolated Acth Deficiency |
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Macrocytic anemia, Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Normocytic anemia,... |
ORPHA:199299 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level |
ORPHA:411593 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... |
OMIM:116920 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... |
ORPHA:51636 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Orotic Aciduria |
|