Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Neutrophilia, Hereditary |
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Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency 110 With Lymphoproliferation |
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Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Myelolymphatic Insufficiency |
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Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Diamond-Blackfan Anemia 18 |
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Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Whim Syndrome 2 |
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Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Immunodeficiency 53 |
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Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Specific Granule Deficiency 1 |
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Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 21 |
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Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Reduced natural ki... |
OMIM:614172 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... |
OMIM:620135 |
Immunodeficiency 105 |
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Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia |
OMIM:615401 |
Trimethylaminuria |
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Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Immunodeficiency 76 |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 52 |
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Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... |
OMIM:617514 |
Diamond-Blackfan Anemia 5 |
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Leukopenia, Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia... |
OMIM:612528 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Pancytopenia, Lymphocytosi... |
OMIM:614470 |
Hemochromatosis, Type 3 |
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Anemia, Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
Cernunnos-Xlf Deficiency |
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Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
Acute Erythroid Leukemia |
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Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Transcobalamin Deficiency |
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Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Anemia, Sideroblastic, 5 |
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Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Immunodeficiency 95 |
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Lymphopenia |
OMIM:619773 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Acquired Idiopathic Sideroblastic Anemia |
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Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Immunodeficiency 13 |
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Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis, Neutropenia |
OMIM:616738 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Genital ulcers, Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Diamond-Blackfan Anemia 4 |
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Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia |
OMIM:612527 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Immunodeficiency 14B, Autosomal Recessive |
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Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
Immunodeficiency 32B |
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Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... |
OMIM:226990 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
Immunodeficiency 97 With Autoinflammation |
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Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Noonan Syndrome 12 |
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Tetralogy of Fallot, Ventricular septal defect, Decreased response to growth hormone stimulation ... |
OMIM:618624 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism, Cardiomegaly |
OMIM:300886 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:620210 |
Thrombocytopenia 5 |
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Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Systemic Lupus Erythematosus 17 |
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Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia |
OMIM:301080 |
Immunodeficiency 44 |
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Lymphopenia |
OMIM:616636 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Liver abscess, Anemia, Neutrophilia, Abnormal testis morphology, Brain abscess |
ORPHA:54251 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low... |
OMIM:602450 |
Deafness-Lymphedema-Leukemia Syndrome |
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Myeloproliferative disorder, Leukocytosis, Hepatomegaly, Thrombocytopenia, Acute leukemia, Abnorm... |
ORPHA:3226 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... |
OMIM:242700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... |
OMIM:619510 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... |
OMIM:617237 |
Lymphangiectasia, Intestinal |
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Lymphopenia |
OMIM:152800 |
Macrocephaly/Autism Syndrome |
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Penile freckling, Hepatomegaly, Lymphopenia, Hydrocele testis, Splenomegaly |
OMIM:605309 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Mirage Syndrome |
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Decreased testicular size, Cryptorchidism, Hypoplastic spleen, Leukopenia, Shawl scrotum, Anemia,... |
OMIM:617053 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia |
OMIM:619767 |
Sneddon Syndrome |
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Bicuspid aortic valve, Lymphopenia |
OMIM:182410 |
Sickle Cell Disease |
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Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cholelithiasis, C... |
OMIM:603903 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia |
ORPHA:169160 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatosplenomegaly, Hypoplasia of the thymus, Secundum atrial septal defect, Cryptorchidism, Inte... |
OMIM:612541 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count |
OMIM:619752 |
Nephrotic Syndrome, Type 14 |
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Cryptorchidism, Lymphopenia, Hypogonadism, Micropenis |
OMIM:617575 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia, Reduced natural killer c... |
ORPHA:276 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutrophilia, Monocytosis |
OMIM:619644 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Granuloma, Lymphopenia, ... |
OMIM:618935 |
Trichothiodystrophy 3, Photosensitive |
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Bilateral cryptorchidism, Lymphopenia, Neutropenia |
OMIM:616395 |
Adult-Onset Still Disease |
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Myocarditis, Leukocytosis, Hepatomegaly, Neutrophilia, Pericarditis, Splenomegaly |
ORPHA:829 |
Relapsing Fever |
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Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia |
ORPHA:91547 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia |
ORPHA:1116 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... |
ORPHA:35078 |
Pgm3-Cdg |
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Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... |
ORPHA:443811 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:616100 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... |
ORPHA:2686 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
ORPHA:760 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopeni... |
ORPHA:508542 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... |
OMIM:243150 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absen... |
OMIM:600802 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... |
OMIM:102700 |
Icf Syndrome |
|
Abnormality of neutrophils, Lymphopenia, Anemia |
ORPHA:2268 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... |
OMIM:613179 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukocytosis, Leukopenia |
ORPHA:36238 |
Familial Mediterranean Fever |
|
Orchitis, Leukocytosis, Hepatomegaly, Neutrophilia, Pericarditis, Splenomegaly |
OMIM:249100 |
Vici Syndrome |
|
Leukopenia, Atrial septal defect, Left ventricular hypertrophy, Cardiomyopathy, Lymphopenia, T ly... |
OMIM:242840 |
Whim Syndrome |
|
Tetralogy of Fallot, Lymphopenia, Parotitis, Abnormality of neutrophil morphology, Cervix cancer,... |
ORPHA:51636 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Hepatomegaly, Splenomegaly, Abscess |
OMIM:612852 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Hepatomegaly, Lymphopenia, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... |
ORPHA:3261 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Anemia, Dilated cardiomyopathy, Sterile abscess, Neutro... |
ORPHA:3243 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Leukemia, Acute lymphoblastic leukemia, Lymphopenia, Female hypogonadis... |
OMIM:208900 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormal cardiac atrium morphology, Lymphopenia, Bicuspid aortic valve, Aorti... |
ORPHA:2306 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... |
ORPHA:391487 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, H... |
ORPHA:84064 |
Hyper-Igd Syndrome |
|
Neutrophilia, Hepatosplenomegaly, Leukocytosis, Splenomegaly |
OMIM:260920 |
Common Variable Immunodeficiency |
|
Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Splenomegaly |
ORPHA:1572 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... |
OMIM:301000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Leukopenia, Orchitis, Hepatomegaly, Parotitis, Thrombocytopenia, Pancy... |
ORPHA:99827 |