Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency 110 With Lymphoproliferation |
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Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Specific Granule Deficiency 1 |
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Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... |
OMIM:614172 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, 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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Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Immunodeficiency 105 |
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Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... |
ORPHA:444463 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Trimethylaminuria |
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Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia |
ORPHA:70592 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Diamond-Blackfan Anemia 5 |
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Leukopenia, Ventricular septal defect, Reticulocytopenia, Erythroid hypoplasia, Hypospadias, Macr... |
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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Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatom... |
OMIM:614470 |
Hemochromatosis, Type 3 |
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Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Cardiomyopathy |
OMIM:604250 |
Whim Syndrome 1 |
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Neutropenia, Abnormality of female external genitalia, Abnormal morphology of female internal gen... |
OMIM:193670 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Neutropenia, Severe Congenital, X-Linked |
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Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia |
ORPHA:318 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
X-Linked Severe Congenital Neutropenia |
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Neutropenia, Monocytopenia |
ORPHA:86788 |
Acquired Idiopathic Sideroblastic Anemia |
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Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia |
OMIM:616738 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Bone Marrow Failure Syndrome 2 |
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Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Immunodeficiency 32B |
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Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Immunodeficiency 97 With Autoinflammation |
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Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Noonan Syndrome 12 |
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Decreased response to growth hormone stimulation test, Ventricular septal defect, Lymphopenia, Th... |
OMIM:618624 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Anemia, Brain abscess, Abnormal testis morphology, Liver abscess, Neutrophilia |
ORPHA:54251 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle le... |
OMIM:602450 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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B lymphocytopenia, Absent circulating B cells, Hypertrophic cardiomyopathy, Decreased proportion ... |
OMIM:619705 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Hepatomegaly, Thrombocytope... |
ORPHA:3226 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
T-Cell Immunodeficiency With Thymic Aplasia |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Ataxia-Telangiectasia |
|
Polycystic ovaries, Lymphopenia, Abnormal testis morphology |
ORPHA:100 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia,... |
OMIM:301078 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Mirage Syndrome |
|
Leukopenia, Anemia, Shawl scrotum, Decreased testicular size, Microphallus, Lymphopenia, Hypospad... |
OMIM:617053 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, H... |
OMIM:603903 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia |
OMIM:619767 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Lymphopenia |
OMIM:182410 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria... |
OMIM:612541 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Micropenis, Lymphopenia, Cryptorchidism |
OMIM:617575 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
ORPHA:276 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Neutropenia, Lymphopenia |
OMIM:616395 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... |
OMIM:618935 |
Adult-Onset Still Disease |
|
Neutrophilia, Pericarditis, Leukocytosis, Hepatomegaly, Myocarditis, Splenomegaly |
ORPHA:829 |
Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly |
OMIM:616100 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ventricular septal defect, Lymphopenia, Impaired lymphocyte transformat... |
OMIM:243150 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
Cowden Syndrome 1 |
|
Hydrocele testis, Lymphopenia, Varicocele, Ovarian carcinoma, Ovarian cyst, Goiter |
OMIM:158350 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis |
OMIM:617099 |
Noonan Syndrome 14 |
|
Mitral valve prolapse, Lymphopenia, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis |
OMIM:619745 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Familial Mediterranean Fever |
|
Neutrophilia, Pericarditis, Leukocytosis, Hepatomegaly, Orchitis, Splenomegaly |
OMIM:249100 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, De... |
ORPHA:90362 |
Vici Syndrome |
|
Leukopenia, Penile hypospadias, T lymphocytopenia, Left ventricular hypertrophy, Dilated cardiomy... |
OMIM:242840 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Splenomegaly, Abscess, Hepatomegaly |
OMIM:612852 |
Whim Syndrome |
|
Abnormality of neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Parotitis, Neutropenia, C... |
ORPHA:51636 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Anemia, Dilated cardiomyopathy, Lymphopenia, Cryptorchidism, Micropenis |
OMIM:616541 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Dilate... |
ORPHA:3243 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Acute... |
OMIM:208900 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Aortic valve stenosis, Abnormal cardiac v... |
ORPHA:2306 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thromb... |
OMIM:615688 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... |
ORPHA:391487 |
Syndromic Diarrhea |
|
Splenomegaly, Hypoplasia of the thymus, Ventricular septal defect, Bicuspid aortic valve, Lymphop... |
ORPHA:84064 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent foramen ovale, Anemia, Lymphopenia, Atrial septal defect, Severe B lymphocytopenia, Access... |
OMIM:620005 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly |
OMIM:260920 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia |
ORPHA:1572 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Decreased CD4:CD8 ratio, Hemolytic anemia, Dilated cardiomyopathy,... |
OMIM:619573 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Immunodeficiency 31C |
|
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Orchitis, Pericardial effusion, Neutrophilia, Pancytopenia, Epididymitis, Parotitis, ... |
ORPHA:99827 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Reticulocytosis, Lymphopenia, Pericarditis, Orchitis, Neutrophilia in presence of inf... |
ORPHA:99826 |
Charge Syndrome |
|
Double outlet right ventricle, Gonadotropin deficiency, Ventricular septal defect, Decreased resp... |
OMIM:214800 |
Reynolds Syndrome |
|
Splenomegaly, Lymphopenia, Hepatomegaly |
OMIM:613471 |