Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 31B |
|
Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Intention tremor, Ataxia, Pigmentary retinopathy, Hemolytic anemia |
OMIM:266130 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... |
OMIM:617514 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Ocular albinism, Hypopigmentation of the fundus, Leukopenia |
OMIM:614171 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt... |
OMIM:159550 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis |
OMIM:616871 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Abnormal distri... |
OMIM:180080 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Progressive Multifocal Leukoencephalopathy |
|
Dysmetria, Gait ataxia, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-... |
ORPHA:217260 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... |
ORPHA:158048 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... |
ORPHA:760 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia |
OMIM:616050 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Abnormality of the optic nerve, Acute leukemia, Splenomegaly, Myeloproliferative di... |
ORPHA:3226 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia |
OMIM:598500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... |
ORPHA:276 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Dystonia, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
Ataxia-Telangiectasia |
|
Tremor, Gait disturbance, Ataxia, Lymphopenia |
ORPHA:100 |
Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Leukopenia, Lethargy |
OMIM:243500 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Macrocytic anemia, Leukopenia, Anemia, Ataxia, Thrombocytopenia, Lethargy |
ORPHA:27 |
Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyperactivity dis... |
OMIM:619151 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia |
ORPHA:86843 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Dystonia, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Lethargy |
ORPHA:79312 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... |
OMIM:600802 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia |
ORPHA:391307 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia |
OMIM:242700 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorrhage |
ORPHA:88 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Tremor... |
OMIM:613179 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... |
ORPHA:572 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Neutropenia, Leukopenia, Ocular albinism, Abnormal dense granules, Giant neutro... |
OMIM:214500 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Ocular albinism, Enlarged platelet dense granules, Absent platelet dense granules, S... |
OMIM:608233 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Waddling gait, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... |
OMIM:612541 |
Ataxia-Telangiectasia |
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Dystonia, Leukemia, Hypoplasia of the thymus, Tremor, Ataxia, Decreased proportion of CD4-positiv... |
OMIM:208900 |
Staphylococcal Necrotizing Pneumonia |
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Leukocytosis, Neutrophilia, Leukopenia, Lethargy |
ORPHA:36238 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly |
OMIM:616100 |
Ebola Hemorrhagic Fever |
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Thrombocytopenia, Lymphopenia, Leukopenia, Lethargy |
ORPHA:319218 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... |
OMIM:618935 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Nephrotic Syndrome, Type 14 |
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Ataxia, Lymphopenia |
OMIM:617575 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia |
ORPHA:1302 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia |
ORPHA:1930 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Transcobalamin Ii Deficiency |
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Macrocytic anemia, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Lethargy |
OMIM:275350 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Immunodeficiency 67 |
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Transient neutropenia, Liver abscess |
OMIM:607676 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Optic nerve hypoplasia, Intention tremor, Reduced natural killer cell count, A... |
ORPHA:221139 |
Immunodeficiency 91 And Hyperinflammation |
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Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Diffuse Cutaneous Mastocytosis |
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Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Methylmalonic Aciduria, Cbla Type |
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Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:251100 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Adult-Onset Still Disease |
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Leukocytosis, Neutrophilia, Splenomegaly |
ORPHA:829 |
Cartilage-Hair Hypoplasia |
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Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Opisthotonus, Inability to walk, Hypereosinophilia, Decreased proportion of CD4-positive helper T... |
ORPHA:508533 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Anemia, Ataxia, Lymphopenia, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
Imerslund-Gräsbeck Syndrome |
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Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia |
ORPHA:508542 |
Immunodeficiency 23 |
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Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Chédiak-Higashi Syndrome |
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Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Gait disturbance, N... |
ORPHA:167 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
Wolcott-Rallison Syndrome |
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Iron deficiency anemia, Lymphocytosis, Neutropenia, Difficulty walking |
ORPHA:1667 |
Primary Intestinal Lymphangiectasia |
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Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive T cells,... |
ORPHA:90362 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Eosinophilia, Lymphopenia |
OMIM:617425 |
Hyper-Igd Syndrome |
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Leukocytosis, Optic disc pallor, Rod-cone dystrophy, Splenomegaly, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Gait disturbance, Dysmetria, Anemia, Ataxia, Dysdiadochokinesis, Lymphopenia, Broad-based gait |
OMIM:616541 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Fusariosis |
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Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma, Abno... |
ORPHA:228119 |
Legionnaires Disease |
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Ataxia, Lymphopenia, Splenomegaly |
ORPHA:549 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia, Ab... |
ORPHA:1830 |
Popov-Chang syndrome |
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Lymphopenia |
OMIM:618428 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Cowden Syndrome 1 |
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Angioid streaks of the fundus, Lymphopenia, Intention tremor |
OMIM:158350 |
Autoimmune Lymphoproliferative Syndrome |
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Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Pediatric Systemic Lupus Erythematosus |
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Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... |
ORPHA:3243 |
Whim Syndrome |
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Limb ataxia, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukocytosis, Thrombocytosis, Optic atrophy, Leukopenia, Anemia, Splenomegaly, Ataxia, Hepatosple... |
OMIM:615688 |
Mirage Syndrome |
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Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Avian Influenza |
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Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:454836 |
Sandhoff Disease |
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Ataxia, Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula |
OMIM:268800 |
Common Variable Immunodeficiency |
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Autoimmune thrombocytopenia, Hemolytic anemia, Lymphopenia, Splenomegaly |
ORPHA:1572 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Neutrophilia, Abscess, Splenomegaly |
OMIM:612852 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... |
OMIM:608643 |
Lujo Hemorrhagic Fever |
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Leukocytosis, Leukopenia, Resting tremor, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Stiff Person Spectrum Disorder |
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Difficulty walking, Falls, Exaggerated startle response |
ORPHA:3198 |
Kasabach-Merritt Syndrome |
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Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Familial Mediterranean Fever |
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Leukocytosis, Neutrophilia, Splenomegaly |
OMIM:249100 |
Leukocyte Adhesion Deficiency Type Ii |
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Leukocytosis, Anemia, Impaired tandem gait, Neutrophilia, Ataxia, Microcytic anemia |
ORPHA:99843 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Ataxia, Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
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Optic atrophy, Gait disturbance, Dystonia, Cherry red spot of the macula, Dysmetria, Exaggerated ... |
ORPHA:845 |
Wiskott-Aldrich Syndrome |
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Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Kikuchi-Fujimoto Disease |
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Neutropenia, Leukopenia, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Japanese Encephalitis |
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Dystonia, Opisthotonus, Tremor, Neutrophilia, Pill-rolling tremor |
ORPHA:79139 |
Tay-Sachs Disease |
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Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:79255 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... |
OMIM:619381 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Immunodeficiency 87 And Autoimmunity |
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Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio, Thrombocytope... |
OMIM:619573 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia |
OMIM:253800 |
Syndromic Diarrhea |
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Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
Idiopathic Hypereosinophilic Syndrome |
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Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Marburg Hemorrhagic Fever |
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Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... |
ORPHA:99826 |
Primary Sjögren Syndrome |
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Normocytic anemia, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proportion of CD4-p... |
ORPHA:289390 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Optic atrophy, Exaggerated startle response |
ORPHA:521426 |
Secondary Intestinal Lymphangiectasia |
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Lymphopenia |
ORPHA:90363 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Cushing Disease |
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Optic nerve compression, Leukocytosis, Lymphopenia, Decreased eosinophil count |
ORPHA:96253 |
Crimean-Congo Hemorrhagic Fever |
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Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia, Retinal hem... |
ORPHA:99827 |
Hennekam Syndrome |
|
Lymphopenia, Splenomegaly |
ORPHA:2136 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Sarcoidosis |
|
Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic anemia |
ORPHA:797 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dystonia, Optic disc pallor, Anemia, Exaggerated startle response, Inability to walk, Broad-based... |
ORPHA:438213 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Lymphopenia, Decreased eosinophil count |
ORPHA:99889 |
Charge Syndrome |
|
Lymphopenia, Retinal coloboma |
OMIM:214800 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |