Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Immunodeficiency 8 |
|
Recurrent respiratory infections, Lymphopenia |
OMIM:615401 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia |
OMIM:615617 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... |
OMIM:615285 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Sepsis, Neutropenia, Leukopenia, Partial absence of specific antibody response... |
OMIM:618986 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... |
OMIM:614470 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Recurrent infections |
OMIM:616271 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Recurrent viral infections, Recurrent infections, I... |
ORPHA:169154 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... |
OMIM:150550 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... |
OMIM:308240 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral he... |
OMIM:619220 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Immunodeficiency 55 |
|
Neutropenia, Recurrent infections |
OMIM:617827 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis |
OMIM:266265 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Reduced natural killer cell activity, Recurrent otitis media, Recurrent vi... |
OMIM:615707 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
ORPHA:2643 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233710 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... |
OMIM:209920 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... |
OMIM:617514 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Immunodeficiency 76 |
|
B lymphocytopenia, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, T lym... |
OMIM:619164 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia,... |
ORPHA:444463 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233690 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis |
OMIM:604173 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... |
OMIM:613101 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... |
ORPHA:88 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
OMIM:251190 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis |
OMIM:230600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia, Recurrent infections |
OMIM:617056 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Recurrent otitis ... |
ORPHA:277 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... |
OMIM:618261 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent opportunistic i... |
OMIM:608971 |
Barth Syndrome |
|
Granulocytopenia, Recurrent infections in infancy and early childhood, Neutropenia |
OMIM:302060 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... |
OMIM:618935 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Pancytopenia, Recurrent... |
OMIM:300635 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections |
OMIM:258360 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Sepsis, Neutropenia |
ORPHA:289916 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... |
ORPHA:276 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... |
ORPHA:169160 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Felty Syndrome |
|
Sepsis, Neutropenia, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Recurre... |
ORPHA:47612 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Re... |
OMIM:617780 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Lymphoproliferative Syndrome 2 |
|
Sepsis, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Hepatosplenomeg... |
OMIM:615122 |
Pelger-Huet Anomaly |
|
Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platelets, Thro... |
OMIM:169400 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... |
ORPHA:331206 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemo... |
OMIM:614162 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Recurrent infections, Monocytosis |
OMIM:610680 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... |
OMIM:613470 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98848 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... |
OMIM:209950 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly |
OMIM:605309 |
Cyclic Neutropenia |
|
Sepsis, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Thrombocytopeni... |
ORPHA:2686 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Autosomal Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent infections, Recurrent respiratory infections |
ORPHA:33110 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... |
OMIM:613179 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... |
OMIM:242700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... |
ORPHA:507 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... |
OMIM:600802 |
Congenital Enterovirus Infection |
|
Leukocytosis, Sepsis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocyt... |
ORPHA:292 |
Immunodeficiency 25 |
|
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... |
ORPHA:167 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Hepatosplenomegaly, Recu... |
OMIM:619644 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increas... |
OMIM:615816 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Reduced natural ki... |
OMIM:608233 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia, Recurrent infections |
OMIM:608809 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
X-Linked Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Recurrent... |
ORPHA:47 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... |
OMIM:242900 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... |
OMIM:616100 |
Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
ORPHA:158029 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 68 |
|
B lymphocytopenia, Sepsis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... |
OMIM:304790 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Recurrent lower ... |
ORPHA:508542 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:614520 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... |
OMIM:102700 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... |
ORPHA:158048 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Neonatal sepsis |
ORPHA:391673 |
Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... |
ORPHA:3226 |
Selective Igm Deficiency |
|
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Recurrent infecti... |
ORPHA:331235 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Recurr... |
ORPHA:51636 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis |
ORPHA:86884 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology |
ORPHA:353 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bone marrow hypoc... |
OMIM:617303 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Recurrent otitis media, Recurr... |
OMIM:612562 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Recur... |
OMIM:615952 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Anemia, ... |
ORPHA:540 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Neutropenia, Splenomegaly |
OMIM:617050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... |
ORPHA:760 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... |
ORPHA:811 |
Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... |
OMIM:260400 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia, Recurrent infections |
ORPHA:79284 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277380 |
Icf Syndrome |
|
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... |
ORPHA:2268 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections |
OMIM:617941 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Anemia, Bone ma... |
ORPHA:1830 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia, Recurrent infections |
ORPHA:1667 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity |
ORPHA:445038 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Recurrent otitis media, Autoimmune thrombocytopenia, Lymphopenia, Recurrent respirat... |
OMIM:607944 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, Polycythemia, Recurrent fun... |
ORPHA:2968 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Bone marrow hypocellularity |
OMIM:609053 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Recurrent respiratory infections, Sea-bl... |
OMIM:257200 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Onychomycosis, Lymphopenia, ... |
ORPHA:228119 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia, Recurrent infections |
OMIM:615471 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Neonatal sepsis, Thrombocytopenia |
ORPHA:90051 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... |
OMIM:617099 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... |
OMIM:116920 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia... |
ORPHA:37042 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... |
OMIM:227645 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Neutropenia, Recurrent infections |
OMIM:601347 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chroni... |
ORPHA:906 |
Adult-Onset Still Disease |
|
Leukocytosis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, Recurrent pharyngitis |
ORPHA:829 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Pneumocystosis |
|
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level |
ORPHA:723 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... |
OMIM:615934 |
Niemann-Pick Disease, Type C1 |
|
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:257220 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Sepsis, Neutrophilia, Leukopenia |
ORPHA:36238 |
Toxic Epidermal Necrolysis |
|
Sepsis, Neutropenia, Anemia, Thrombocytopenia, Recurrent respiratory infections |
ORPHA:537 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Pancy... |
OMIM:603553 |
Niemann-Pick Disease, Type C2 |
|
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607625 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:267700 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Lymphopenia, Th... |
OMIM:617591 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Sp... |
OMIM:260920 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... |
OMIM:259720 |
Ataxia-Telangiectasia |
|
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... |
OMIM:208900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Recurr... |
ORPHA:391487 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia |
OMIM:617425 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... |
OMIM:227646 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Mastocytosis |
|
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly |
ORPHA:98292 |
Trichothiodystrophy |
|
Neutropenia, Recurrent bronchopulmonary infections, Anemia, Recurrent infections, Panhypogammaglo... |
ORPHA:33364 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, Hypersplenism, Hepato... |
ORPHA:228426 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Neutropenia, Recurrent ear infections, Recurrent cutaneous absc... |
ORPHA:163956 |
Common Variable Immunodeficiency |
|
Recurrent bronchitis, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytop... |
ORPHA:1572 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Recurrent infections, Neutroph... |
ORPHA:3243 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media |
OMIM:618428 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Recurrent infections, Recurrent gastroenteritis |
ORPHA:39812 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:2909 |
Nephrotic Syndrome, Type 14 |
|
Lymphopenia |
OMIM:617575 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227990 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Legionnaires Disease |
|
Sepsis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Recurrent pharyngitis |
ORPHA:549 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:221008 |
Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly |
OMIM:612852 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:221016 |
Avian Influenza |
|
Thrombocytopenia, Sepsis, Lymphopenia, Leukopenia |
ORPHA:454836 |
Cartilage-Hair Hypoplasia |
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Anemia, Decreased circulating antibody level, Neutropenia |
ORPHA:175 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukocytosis, Thrombocytosis, Leukopenia, Decreased circulating antibody level, Anemia, Bone marr... |
OMIM:615688 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia |
ORPHA:79259 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227982 |
Lysinuric Protein Intolerance |
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Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:222700 |
H Syndrome |
|
Recurrent pharyngitis, Hepatosplenomegaly, Microcytic anemia, Histiocytosis |
ORPHA:168569 |
Pearson Syndrome |
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Neutropenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Reticulocytosis, Pancytopenia, Th... |
ORPHA:699 |
Leukocyte Adhesion Deficiency Type Ii |
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Leukocytosis, Abnormal isohemagglutinin level, Recurrent otitis media, Anemia, Recurrent infectio... |
ORPHA:99843 |
Aspartylglucosaminuria |
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Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia |
OMIM:208400 |
Pediatric Systemic Lupus Erythematosus |
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Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
Listeriosis |
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Brain abscess, Sepsis, Splenic abscess, Abscess, Abnormal cellular immune system morphology, Hepa... |
ORPHA:533 |
Granulomatosis With Polyangiitis |
|
Granulomatosis |
OMIM:608710 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Cowden Syndrome 1 |
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Decreased circulating antibody level, Recurrent infections, Lymphopenia |
OMIM:158350 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Say-Barber-Miller Syndrome |
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Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Familial Mediterranean Fever |
|
Leukocytosis, Neutrophilia, Splenomegaly |
OMIM:249100 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating antibody level, Increased circulating IgE ... |
ORPHA:508533 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... |
ORPHA:90363 |
Lysinuric Protein Intolerance |
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Recurrent bacterial infections, Leukopenia, Decreased circulating antibody level, Anemia, Hepatos... |
ORPHA:470 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Histiocytosis, Splenomegaly |
OMIM:602782 |
Sponastrime Dysplasia |
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Recurrent pneumonia, Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Anemia, Lymphopenia |
OMIM:616541 |
Syndromic Diarrhea |
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Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Recurrent infections, S... |
ORPHA:84064 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319213 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Sepsis, Neutropenia |
ORPHA:95455 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Recurrent respiratory infections |
ORPHA:900 |
Idiopathic Hypereosinophilic Syndrome |
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Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Hennekam Syndrome |
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Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
ORPHA:2136 |
Primary Sjögren Syndrome |
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Normocytic anemia, Leukopenia, Normochromic anemia, Decreased circulating antibody level, Increas... |
ORPHA:289390 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... |
ORPHA:99826 |
Yellow Fever |
|
Leukocytosis, Increased circulating IgM level, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Cushing Disease |
|
Leukocytosis, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count |
ORPHA:96253 |
Crimean-Congo Hemorrhagic Fever |
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Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ... |
ORPHA:99827 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count |
ORPHA:99889 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |