Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... |
OMIM:615285 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:613501 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis |
OMIM:616871 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia |
OMIM:616740 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... |
ORPHA:169154 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... |
OMIM:617514 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Barth Syndrome |
|
Failure to thrive, Granulocytopenia, Neutropenia |
OMIM:302060 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... |
OMIM:615513 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... |
OMIM:619220 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia |
OMIM:617475 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia |
OMIM:600351 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Erythr... |
OMIM:612541 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... |
ORPHA:572 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Anemia, Abnormal mast cell mo... |
ORPHA:98850 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia |
OMIM:614520 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Monocytosis |
OMIM:610680 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... |
OMIM:304790 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Splenomegaly |
OMIM:605309 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia |
ORPHA:292 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251110 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Throm... |
ORPHA:47 |
Cohen Syndrome |
|
Small for gestational age, Neutropenia, Childhood-onset truncal obesity, Leukopenia |
OMIM:216550 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Felty Syndrome |
|
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Neutropenia |
OMIM:608809 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251100 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Neutropenia |
ORPHA:33110 |
Propionic Acidemia |
|
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:606054 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia |
OMIM:277380 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... |
ORPHA:158048 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Pancytopenia |
ORPHA:2169 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age |
ORPHA:391673 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia |
ORPHA:508542 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, Lymphop... |
OMIM:242700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... |
OMIM:260400 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Neutropenia |
OMIM:209920 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Immunodeficiency 23 |
|
Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Weight loss, Splenomegaly, Myeloproliferative disorder, Thrombocyto... |
ORPHA:3226 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... |
OMIM:614700 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Failure to thr... |
ORPHA:1830 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:600901 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Failure to thrive, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:308230 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:227650 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... |
ORPHA:331206 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Neutropenia |
OMIM:609053 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Absent natural kil... |
OMIM:600802 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:540 |
Shwachman-Diamond Syndrome 2 |
|
Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Anemia, Neutrophilia, Liver abscess |
ORPHA:54251 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... |
ORPHA:169160 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617303 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Pure red cell aplasia, S... |
OMIM:613179 |
Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly |
OMIM:617050 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Failure to thrive, Neutropenia, Small for gestational age |
OMIM:615471 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombocytopenia, Dec... |
ORPHA:90051 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:227645 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Neutropenia |
OMIM:618005 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... |
ORPHA:276 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... |
ORPHA:760 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma |
ORPHA:228119 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Vacuolated lymphocytes, A... |
ORPHA:167 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia |
ORPHA:100 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Neutrophilia, Increased proportion of CD4-positive T ... |
OMIM:617099 |
Whim Syndrome |
|
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Weight loss, Neutrophilia |
ORPHA:1302 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres... |
OMIM:615952 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Failure to thrive, Reduced red cell adenosine deaminase level, Splenomegaly, A... |
OMIM:102700 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... |
ORPHA:37042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... |
OMIM:618935 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly |
OMIM:616100 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Decreased body weight, Neutropenia |
OMIM:601347 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... |
ORPHA:35078 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... |
OMIM:606367 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:227646 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... |
OMIM:613011 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Cohen Syndrome |
|
Obesity, Failure to thrive in infancy, Neutropenia |
ORPHA:193 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Weight loss, Neutropenia |
ORPHA:537 |
Glycogen Storage Disease Ib |
|
Neutropenia |
OMIM:232220 |
Leigh Syndrome |
|
Anemia, Neutropenia, Failure to thrive |
ORPHA:506 |
Rothmund-Thomson Syndrome |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia |
ORPHA:2909 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Failure to thrive, Anemia, Lymphopenia |
OMIM:615934 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... |
OMIM:105650 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Neutrophilia, Leukopenia |
ORPHA:36238 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil anti... |
ORPHA:525731 |
Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia |
ORPHA:221008 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Adult-Onset Still Disease |
|
Leukocytosis, Neutrophilia, Splenomegaly |
ORPHA:829 |
Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:319218 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Nephrotic Syndrome, Type 14 |
|
Lymphopenia |
OMIM:617575 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Failure to thrive in infancy, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism... |
ORPHA:228426 |
Trichothiodystrophy |
|
Anemia, Neutropenia, Increased mean corpuscular hemoglobin concentration |
ORPHA:33364 |
Rothmund-Thomson Syndrome Type 2 |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia |
ORPHA:221016 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of ... |
ORPHA:90362 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Failure to thrive |
ORPHA:175 |
Popov-Chang syndrome |
|
Failure to thrive, Lymphopenia |
OMIM:618428 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Failure to thrive in infancy, Splenomegaly |
OMIM:612852 |
Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Decreased body weight, Hypoplastic spleen |
OMIM:617053 |
Pearson Syndrome |
|
Neutropenia, Small for gestational age, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thro... |
ORPHA:699 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Recurrent cutaneous abscess formation |
ORPHA:163956 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:208900 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia |
OMIM:127550 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic a... |
ORPHA:1572 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia, Large for gestational age |
ORPHA:500095 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
Pediatric Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Avian Influenza |
|
Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:454836 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... |
ORPHA:3243 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Abnormal myeloid leukocyte morphology, Anemia, Failure to thrive |
ORPHA:79259 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Legionnaires Disease |
|
Lymphopenia, Splenomegaly |
ORPHA:549 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... |
ORPHA:508533 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Thymic Aplasia |
|
Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, T lymphocytopenia, Aplas... |
ORPHA:83471 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Anemia, Lymphopenia, Truncal obesity |
OMIM:616541 |
Hyper-Igd Syndrome |
|
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly |
OMIM:260920 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:615688 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319213 |
Familial Mediterranean Fever |
|
Leukocytosis, Neutrophilia, Splenomegaly |
OMIM:249100 |
Cowden Syndrome 1 |
|
Lymphopenia |
OMIM:158350 |
Sponastrime Dysplasia |
|
Neutropenia, Small for gestational age |
ORPHA:93357 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Small for gestational age, Failure to thrive, Anemia, Neutrophilia, Microcytic anemia |
ORPHA:99843 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Small for gestational age, Hypoplasia of the thym... |
ORPHA:84064 |
Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased C... |
OMIM:619573 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Failure to thrive, Anemia, Splenomegaly, Myeloproliferative disorde... |
ORPHA:3260 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... |
ORPHA:99826 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... |
ORPHA:289390 |
Cushing Disease |
|
Leukocytosis, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased eosinophil count, Increa... |
ORPHA:96253 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... |
OMIM:619381 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia |
ORPHA:90363 |
Hennekam Syndrome |
|
Lymphopenia, Splenomegaly |
ORPHA:2136 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia |
ORPHA:99827 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Weight loss, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased eosinophil ... |
ORPHA:99889 |