Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Myelolymphatic Insufficiency |
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Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
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 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia |
ORPHA:70592 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Acute Erythroid Leukemia |
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Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Immunodeficiency 76 |
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Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Bone Marrow Failure Syndrome 2 |
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Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Immunodeficiency 95 |
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Lymphopenia |
OMIM:619773 |
Transcobalamin Deficiency |
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Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Orthostatic Hypotension 2 |
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Hypoglycemia, Anemia |
OMIM:618182 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Immunodeficiency 44 |
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Lymphopenia |
OMIM:616636 |
Systemic Lupus Erythematosus 17 |
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Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Diamond-Blackfan Anemia 4 |
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Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Hemochromatosis, Type 3 |
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Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly, Hypoglycemia |
ORPHA:664 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Diamond-Blackfan Anemia 5 |
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Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Lymphangiectasia, Intestinal |
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Lymphopenia |
OMIM:152800 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Immunodeficiency 36 With Lymphoproliferation |
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Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Ghosal Hematodiaphyseal Dysplasia |
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Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia |
ORPHA:1116 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Hypoglycemia, Anemia |
OMIM:618838 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Cyclic Neutropenia |
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Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Pgm3-Cdg |
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Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Reni Syndrome |
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Lymphopenia, Hypoglycemia |
OMIM:617575 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:616100 |
Mirage Syndrome |
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Hypoglycemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Acute Radiation Syndrome |
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Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Ataxia-Telangiectasia |
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Diabetes mellitus, Acute lymphoblastic leukemia, T lymphocytopenia, Glucose intolerance, Hypoplas... |
OMIM:208900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:617591 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |