Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Follicular hyperplasia, Autoimm... |
OMIM:614470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenom... |
OMIM:602450 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia... |
ORPHA:169154 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Pneumonia, Abnormal immuno... |
ORPHA:276 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocyt... |
OMIM:226990 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Eosinophilia, Postnatal growth retardation, Recurre... |
ORPHA:353298 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure to thrive, Reduced... |
OMIM:615592 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoim... |
OMIM:613179 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Lymphadenopathy, H... |
OMIM:619644 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... |
ORPHA:331206 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, L... |
OMIM:615387 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:603909 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Lymph node hypoplasia, Decreased circula... |
OMIM:300755 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169160 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent pneumonia, Re... |
OMIM:617585 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Bronchiectasis, Decreased circulating t... |
OMIM:617638 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Roifman Syndrome |
|
Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Recurrent pneumonia, Pro... |
OMIM:616651 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Abnormal ... |
ORPHA:39041 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Hypersensitivity p... |
ORPHA:2902 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Growth delay, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:243700 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Increased circulating IgE level, Bronchiectasis, Eosinophilia |
OMIM:618523 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ... |
OMIM:304790 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymp... |
OMIM:603554 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Eosinophilia, Increased circulating IgE level, Steril... |
OMIM:618282 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Increased circulating IgE level, Nail dystrophy |
OMIM:270300 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Netherton Syndrome |
|
Sparse scalp hair, Failure to thrive, Brittle hair, Recurrent respiratory infections, Brittle sca... |
OMIM:256500 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Abscess, Abnormality of the testis size, Eosinophilia, ... |
ORPHA:400 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Gr... |
OMIM:617388 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Increased proportion autoreactive unresponsive CD21-/low B cells... |
OMIM:618534 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... |
ORPHA:90045 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, C... |
OMIM:612541 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... |
OMIM:617237 |
Aspergillosis |
|
Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Increased circulating IgE level, Bronchiec... |
ORPHA:1163 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Short stature, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Recurrent respiratory infections, Abscess, Eosinophilia, Increased... |
OMIM:615816 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... |
OMIM:618987 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Immunodeficiency 27A |
|
Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Enlarged mesenteric lymph node, Lympha... |
OMIM:209950 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Cervical lymphadenopathy, Recu... |
ORPHA:2686 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphadenopathy, Weight loss, Interstitial pneumonitis, Lymphocytosis |
ORPHA:139402 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Eosinophilia, Abnormal hair morphology, Atelectasis, Increased ... |
ORPHA:2314 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Abnormal posturing, Failure to th... |
OMIM:614857 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Increased circulating IgA level, Pleural thickening, Increased circulating IgE l... |
OMIM:619632 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, Increased circulating IgE level, Recurrent up... |
ORPHA:277 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... |
ORPHA:98813 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology |
ORPHA:724 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le... |
OMIM:615285 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Abnormality of the lymphati... |
ORPHA:54251 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Hypopigmentation of hair, Recurrent respiratory infections, Albin... |
OMIM:242840 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphade... |
ORPHA:3226 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent respiratory infections, Short stature, Postnatal growth retardation, Splen... |
OMIM:620210 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Widow's peak, Reduction of neutrophil motility, Bronchiol... |
OMIM:266265 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Splenomegaly, Lymp... |
OMIM:609981 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased c... |
ORPHA:284 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Disproportionate short stature, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormal lung morphology, Abnormality of the lymphatic system, Hypereosi... |
ORPHA:2035 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Tularemia |
|
Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M... |
ORPHA:3392 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Coarse hair, Nail dystrophy, Sparse hair,... |
OMIM:158310 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Reduced natural killer cell co... |
OMIM:615214 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ... |
ORPHA:3260 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Coccidioidomycosis |
|
Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphad... |
ORPHA:228123 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Abnormal lung morphology, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Incontinentia Pigmenti |
|
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Fine hair, Coarse hair... |
OMIM:308300 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Disproportionate short stature, Increa... |
ORPHA:508533 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility |
OMIM:615872 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Weight loss,... |
ORPHA:199299 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy,... |
ORPHA:449432 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Eosinophilia, Abnormal pleura morphology, Weight loss |
ORPHA:183 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism |
ORPHA:79087 |
Immunodeficiency 92 |
|
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... |
OMIM:619652 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Orchitis, Abnormal lung morphology, Increased cir... |
ORPHA:449563 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch... |
OMIM:308230 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morphology, Increase... |
ORPHA:449395 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Eosinophilia, Abnormal pleura morphology, Thrombocytopenia, Increased... |
ORPHA:797 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphade... |
ORPHA:520 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis |
OMIM:619466 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... |
OMIM:617099 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,... |
ORPHA:98850 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphocytopenia, Bone... |
OMIM:301078 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... |
ORPHA:244 |
Adult-Onset Still Disease |
|
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Recurrent pharyngitis, Bon... |
ORPHA:829 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
Pneumocystosis |
|
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... |
ORPHA:723 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Incontinentia Pigmenti |
|
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Abnormal hair morphology, Dystrophic... |
ORPHA:464 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Thrombocytopenia, Leukocytosis, Decreased circulating antibody level... |
OMIM:274000 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Nail dystrophy, B... |
OMIM:615190 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Abnormal pulmonary inters... |
OMIM:620233 |
Whim Syndrome |
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Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... |
ORPHA:51636 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
C1Q Deficiency 2 |
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Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia |
OMIM:620321 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Diffuse Cutaneous Mastocytosis |
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Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... |
ORPHA:906 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Failure to thrive, Reticulocytosis, Recurrent respiratory infections, Anisocyto... |
OMIM:618278 |
Kikuchi-Fujimoto Disease |
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Alopecia, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, ... |
ORPHA:50918 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Cryptogenic Organizing Pneumonia |
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Pneumothorax, Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cushing Disease |
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Sparse scalp hair, Leukocytosis, Increased body weight, Secondary amenorrhea, Truncal obesity, Ab... |
ORPHA:96253 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymphadenopathy, Im... |
OMIM:306400 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Bronchopulmonary Dysplasia |
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Small for gestational age, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Staphylococcal Necrotizing Pneumonia |
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Neutrophilia, Pneumonia, Leukocytosis, Pneumothorax, Acute infectious pneumonia, Leukopenia, Pleu... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... |
OMIM:617718 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Onychotrichodysplasia And Neutropenia |
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Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Short eyelashes, Lymphocytos... |
OMIM:258360 |
Ciliary Dyskinesia, Primary, 21 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Abnormal posturing, Recurrent upper respiratory tract infections, Recurrent streptococcus pneumon... |
ORPHA:225147 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Neoplasm of the thymus, Small cell lung carcinoma, Leukocytosis, Increased bod... |
ORPHA:99889 |
Immunodeficiency 55 |
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Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Wolcott-Rallison Syndrome |
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Short stature, Neutropenia, Growth delay, Iron deficiency anemia, Lymphocytosis, Decreased body w... |
ORPHA:1667 |
Asbestos Intoxication |
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Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... |
ORPHA:2302 |
Hyper-Igd Syndrome |
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Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... |
OMIM:260920 |
Farber Disease |
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Short stature, Nodular pattern on pulmonary HRCT, Thrombocytopenia, Atelectasis, Recurrent upper ... |
ORPHA:333 |
Sandifer Syndrome |
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Abnormal posturing, Anemia |
ORPHA:71272 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Pulmonary fibrosis |
OMIM:612852 |
Brucellosis |
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Liver abscess, Bronchitis, Increased circulating IgG level, Leukopenia, Leukocytosis, Lymphadenop... |
ORPHA:1304 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Short stature, Increased circulating IgE level, Hypereosinophilia, P... |
OMIM:619472 |
Leukocyte Adhesion Deficiency Type Ii |
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Broad eyebrow, Neutrophilia, Short stature, Small for gestational age, Microcytic anemia, Leukocy... |
ORPHA:99843 |
Recurrent Respiratory Papillomatosis |
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Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... |
OMIM:618213 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Recurrent respiratory infections, Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocy... |
OMIM:301074 |
Myotubular Myopathy With Abnormal Genital Development |
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Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Neonatal death |
OMIM:300219 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, We... |
ORPHA:171 |
Sickle Cell Disease |
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Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Target cells, Increased red cel... |
OMIM:603903 |
Dystonia 1, Torsion, Autosomal Dominant |
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Abnormal posturing |
OMIM:128100 |
Meconium Aspiration Syndrome |
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Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Familial Mediterranean Fever |
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Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Pleural effusion, Pleuritis |
OMIM:249100 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Nail dystrophy |
OMIM:614204 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia, Cachexia |
ORPHA:75565 |
Respiratory Distress Syndrome In Premature Infants |
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Atelectasis, Pulmonary edema |
OMIM:267450 |
Waardenburg Syndrome Type 3 |
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Atelectasis, White hair, Thick eyebrow |
ORPHA:896 |
Bronchogenic Cyst |
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Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia |
ORPHA:1930 |
Familial Nasal Acilia |
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Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Infant Acute Respiratory Distress Syndrome |
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Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Short stature, Polycythemia, Thrombocytosis, Pneumonia, Perianal abscess,... |
ORPHA:2968 |
Dermatomyositis |
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Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Abnorma... |
ORPHA:221 |
Lujo Hemorrhagic Fever |
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Atelectasis, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Unilateral Polymicrogyria |
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Abnormal posturing, Perisylvian polymicrogyria, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of the thymus, Pulmo... |
OMIM:613177 |
Short-Rib Thoracic Dysplasia 12 |
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Splenomegaly, Atelectasis, Pulmonary hypoplasia, Hypoplastic nipples, Neonatal death, Intrauterin... |
OMIM:269860 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Atelectasis, Abnormality of the lymphatic system, Pneumothorax,... |
ORPHA:538 |
Zygomycosis |
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Brain abscess, Mediastinal lymphadenopathy, Atelectasis, Pneumothorax, Acute infectious pneumonia... |
ORPHA:73263 |
22Q11.2 Deletion Syndrome |
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Short stature, Abnormality of the tonsils, Impaired T cell function, Splenomegaly, Cryptorchidism... |
ORPHA:567 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Diffuse alveolar hemorrhage, Orchitis, Splenomegaly, Leukocytosis, Ly... |
ORPHA:99827 |
Liver Disease, Severe Congenital |
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Dry hair, Pneumonia, Splenomegaly, Hydrocele testis, Leukopenia, Anemia, Nail dystrophy, Lymphocy... |
OMIM:619991 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Lissencephaly, Decreased body weight, Recurrent lower respiratory tract infections, ... |
ORPHA:258 |
Digeorge Syndrome |
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Short stature, Impaired T cell function, Splenomegaly, Thrombocytopenia, Atelectasis, Recurrent p... |
OMIM:188400 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Recurrent respiratory infections, Short stature, Cryptorchidism, Atelectasis, ... |
ORPHA:534 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis, Failure to thrive |
ORPHA:365 |
Chand Syndrome |
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Curly hair, Atelectasis |
ORPHA:1401 |
Relapsing Polychondritis |
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Atelectasis, Alopecia |
ORPHA:728 |