Immunodeficiency 88 |
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Eosinophilia |
OMIM:619630 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Carbimazole Sensitivity |
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Drug-induced agranulocytosis |
OMIM:212060 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Nevoid Hypermelanosis, Linear And Whorled |
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Eosinophilia |
OMIM:614323 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Iron-Refractory Iron Deficiency Anemia |
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Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Ichthyosis-Prematurity Syndrome |
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Eosinophilia |
ORPHA:88621 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Rh-Null, Amorph Type |
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Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
Myeloperoxidase Deficiency |
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Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Hypereosinophilic Syndrome, Idiopathic |
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Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Immunodeficiency 32B |
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Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Kimura Disease |
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Eosinophilia |
ORPHA:482 |
Myelolymphatic Insufficiency |
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Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Cyclic Neutropenia |
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Cyclic neutropenia |
OMIM:162800 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
Wells Syndrome |
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Eosinophilia |
ORPHA:901 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Cinca Syndrome |
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Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra... |
OMIM:607115 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Reticular Dysgenesis |
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Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
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Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Specific Granule Deficiency 1 |
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Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
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Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
Eosinophilic Gastroenteritis |
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Hypoalbuminemia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:2070 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Immunodeficiency 7 |
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Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
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Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Rh Deficiency Syndrome |
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Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
Immunodeficiency 11B With Atopic Dermatitis |
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Eosinophilia |
OMIM:617638 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia |
ORPHA:70592 |
Immunodeficiency 49 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Immunodeficiency 25 |
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Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Refractory Anemia |
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Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Trimethylaminuria |
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Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Eosinophilic Fasciitis |
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Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia |
OMIM:620532 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Neutropenia |
ORPHA:90023 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia |
OMIM:618523 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Peeling Skin Syndrome 1 |
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Eosinophilia |
OMIM:270300 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia |
ORPHA:99965 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Hemochromatosis, Type 3 |
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Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia |
OMIM:615401 |
Fanconi Anemia, Complementation Group V |
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Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
Glutamate Formiminotransferase Deficiency |
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Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Omenn Syndrome |
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Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Fanconi Anemia, Complementation Group G |
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Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Megaloblastic Anemia, Folate-Responsive |
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Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... |
OMIM:601775 |
Hereditary Folate Malabsorption |
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Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypereosinophilia, Autoimmun... |
OMIM:617388 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia |
ORPHA:449400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcemia |
ORPHA:199299 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Cystic Echinococcosis |
|
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia |
ORPHA:400 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia |
OMIM:617056 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... |
ORPHA:54251 |
Systemic Lupus Erythematosus 17 |
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Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Idiopathic Aplastic Anemia |
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Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:88 |
Immunodeficiency 44 |
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Lymphopenia |
OMIM:616636 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Immunodeficiency 114, Folate-Responsive |
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Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
Relapsing Fever |
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Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Eosinophilia |
ORPHA:2314 |
Congenital Erythropoietic Porphyria |
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Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
Immunodeficiency 67 |
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Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Angiostrongyliasis |
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Hypereosinophilia |
ORPHA:74 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Alveolar Echinococcosis |
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Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess |
ORPHA:284 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Imerslund-Gräsbeck Syndrome |
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Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
Eosinophilic Granulomatosis With Polyangiitis |
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Eosinophilia |
ORPHA:183 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia |
OMIM:158310 |
Deafness-Lymphedema-Leukemia Syndrome |
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Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Idiopathic Hypereosinophilic Syndrome |
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Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Igg4-Related Pachymeningitis |
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Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449427 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Psoriasis 14, Pustular |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
OMIM:614204 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Aregenerative Anemia |
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Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... |
ORPHA:760 |
Cryptogenic Organizing Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Herpes Simplex Virus Encephalitis |
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Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Incontinentia Pigmenti |
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Eosinophilia, Leukocytosis |
OMIM:308300 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:617099 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
Incontinentia Pigmenti |
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Eosinophilia |
ORPHA:464 |
Primary Intestinal Lymphangiectasia |
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Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Thrombocytopenia-Absent Radius Syndrome |
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Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:274000 |
Immunodeficiency 110 With Lymphoproliferation |
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Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating inosi... |
OMIM:613179 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... |
OMIM:618935 |
Coccidioidomycosis |
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Abnormality of the spleen, Eosinophilia, Granuloma, Abscess |
ORPHA:228123 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
Staphylococcal Necrotizing Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Igg4-Related Kidney Disease |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Adult-Onset Still Disease |
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Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... |
ORPHA:829 |
Avian Influenza |
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Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Generalized Pustular Psoriasis |
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Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... |
ORPHA:247353 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
Immunodeficiency 55 |
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Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Sarcoidosis |
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Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... |
ORPHA:797 |
Igg4-Related Ophthalmic Disease |
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Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449563 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration, Thrombocytosis, A... |
OMIM:615934 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:616100 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Acute Radiation Syndrome |
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Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Cartilage-Hair Hypoplasia |
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Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia |
OMIM:617591 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen |
OMIM:617053 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia, Eosinophilia, Splenomegaly |
ORPHA:75565 |
Familial Mediterranean Fever |
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Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... |
OMIM:249100 |
Ataxia-Telangiectasia |
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Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
Cushing Disease |
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Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Common Variable Immunodeficiency |
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Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly |
ORPHA:1572 |
Viss Syndrome |
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Hypereosinophilia |
OMIM:619472 |
Marburg Hemorrhagic Fever |
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Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
Hyper-Igd Syndrome |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
Reynolds Syndrome |
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Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis |
OMIM:613471 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:99889 |
Dermatomyositis |
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Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration |
ORPHA:221 |
Yellow Fever |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |