Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis |
ORPHA:168621 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor |
OMIM:614278 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... |
OMIM:620565 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia |
OMIM:617388 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess |
ORPHA:400 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly |
OMIM:611762 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Eosinophilia, Macrocytic anemia |
ORPHA:199299 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess |
ORPHA:284 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia |
OMIM:612840 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis |
OMIM:308300 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia |
ORPHA:54251 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia |
OMIM:617099 |
Diffuse Cutaneous Mastocytosis |
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Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Thrombocytopenia-Absent Radius Syndrome |
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Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:274000 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
Coccidioidomycosis |
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Abnormality of the spleen, Eosinophilia, Granuloma, Abscess |
ORPHA:228123 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Wolcott-Rallison Syndrome |
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Lymphocytosis, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Tafro Syndrome |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:457077 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
Pyomyositis |
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Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
Sickle Cell Disease |
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Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia |
ORPHA:449563 |
Sarcoidosis |
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Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:797 |
Igg4-Related Kidney Disease |
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Eosinophilia |
ORPHA:449395 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
Adult-Onset Still Disease |
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Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Neutrophilia, Anemia |
ORPHA:829 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
Urachal Cyst |
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Leukocytosis, Abscess |
ORPHA:488 |
Cushing Disease |
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Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
Hyper-Igd Syndrome |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
Tropical Endomyocardial Fibrosis |
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Eosinophilia, Splenomegaly |
ORPHA:75565 |
Cogan Syndrome |
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Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Familial Mediterranean Fever |
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Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:249100 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
Viss Syndrome |
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Hypereosinophilia |
OMIM:619472 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:99889 |
Dermatomyositis |
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Abnormal eosinophil morphology |
ORPHA:221 |
Yellow Fever |
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Leukocytosis, Thrombocytopenia, Neutrophilia |
ORPHA:99829 |
Liver Disease, Severe Congenital |
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Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia |
OMIM:619991 |