Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 19 |
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Lymphopenia |
OMIM:615617 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Myelolymphatic Insufficiency |
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Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Retinoschisis 1, X-Linked, Juvenile |
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Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Familial Drusen |
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Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 21 |
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Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Immunodeficiency 105 |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Immunodeficiency 76 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency 13 |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Diamond-Blackfan Anemia 5 |
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Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
Immunodeficiency 95 |
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Lymphopenia |
OMIM:619773 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Eosinophilia, Lymphopenia |
ORPHA:2582 |
Transcobalamin Deficiency |
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Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Hermansky-Pudlak Syndrome 9 |
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Leukopenia, Thrombocytopenia, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Systemic Lupus Erythematosus 17 |
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Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Hemochromatosis, Type 3 |
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Anemia, Lymphopenia, Cardiomyopathy, Neutropenia |
OMIM:604250 |
Noonan Syndrome 12 |
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Ventricular septal defect, Thrombocytopenia, Lymphopenia, Tetralogy of Fallot |
OMIM:618624 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Immunodeficiency 97 With Autoinflammation |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Immunodeficiency 44 |
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Lymphopenia |
OMIM:616636 |
Sneddon Syndrome |
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Bicuspid aortic valve, Lymphopenia |
OMIM:182410 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Immunodeficiency 31C |
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Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Immunodeficiency 36 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Lymphangiectasia, Intestinal |
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Lymphopenia |
OMIM:152800 |
Autosomal Dominant Severe Congenital Neutropenia |
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Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Macrocephaly/Autism Syndrome |
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Lymphopenia, Splenomegaly |
OMIM:605309 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... |
OMIM:243150 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Neutropenia, Anemia, Th... |
ORPHA:508542 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Hypoplasia of the th... |
OMIM:612541 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
Immunodeficiency 49 |
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Eosinophilia, Lymphopenia |
OMIM:617237 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Icf Syndrome |
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Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Immunodeficiency 55 |
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Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Optic atrophy, Thrombocy... |
OMIM:615688 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... |
OMIM:613179 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Ebola Hemorrhagic Fever |
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Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Syndromic Diarrhea |
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Bicuspid aortic valve, Lymphopenia, Atrial septal defect, Splenomegaly, Hypoplasia of the thymus,... |
ORPHA:84064 |
Fusariosis |
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Lymphopenia, Abnormality of the spleen, Brain abscess, Abnormal retinal morphology, Neutropenia, ... |
ORPHA:228119 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia |
OMIM:127550 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Immunodeficiency 87 And Autoimmunity |
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Lymphopenia, Atrial septal defect, Atrioventricular canal defect, Thrombocytopenia, Hemolytic ane... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Whim Syndrome |
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Tetralogy of Fallot, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
ORPHA:1572 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |