Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Recur... |
OMIM:615707 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... |
OMIM:615615 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... |
OMIM:615214 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Reduced natural killer cell count, Recurrent infections, Hepat... |
OMIM:618261 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis, Recurrent infections |
OMIM:615592 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Chronic oral candi... |
OMIM:212050 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract... |
OMIM:301082 |
Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... |
OMIM:615401 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... |
ORPHA:276 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Recurrent viral infections, Severe varicella zoster infection, Reduced p... |
OMIM:615897 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... |
ORPHA:217390 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, T lymphocytopenia, B lymphocytopenia, Reduced... |
OMIM:618108 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... |
OMIM:619802 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Persistent EBV viremia, T lymphocytopenia, Decreased proportion... |
OMIM:619510 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... |
OMIM:612692 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:608184 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... |
OMIM:609981 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections |
OMIM:233650 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Immunodeficiency 68 |
|
Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnormal natural kil... |
OMIM:612260 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Pyoderma ga... |
OMIM:616576 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... |
OMIM:619313 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... |
ORPHA:331206 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Skin ulcer, Leukopenia, Anemia |
ORPHA:33355 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:619752 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... |
OMIM:607594 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... |
ORPHA:572 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... |
OMIM:600802 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph... |
OMIM:616005 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Meningitis, Thrombocytopenia |
OMIM:616050 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Immunodeficiency 55 |
|
Absent natural killer cells, Dry skin, Recurrent infections, Neutropenia, Lymphopenia |
OMIM:617827 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin ulcer |
ORPHA:231 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of neutrophi... |
ORPHA:229717 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, ... |
OMIM:612840 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Purpura, Recurrent bacterial infections, Autoimmune thrombocyto... |
OMIM:613496 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis, Skin ulcer |
ORPHA:1117 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Skin ulcer, Recurrent bronchitis |
OMIM:604571 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Erythema, Chronic mucocuta... |
OMIM:147060 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b... |
OMIM:619164 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral ... |
ORPHA:169154 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... |
OMIM:601495 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Petechiae |
OMIM:620133 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... |
ORPHA:221139 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... |
ORPHA:158048 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... |
ORPHA:169090 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Classic Mycosis Fungoides |
|
Splenomegaly, Erythema, Skin ulcer, Abnormal lymphocyte morphology, Dry skin |
ORPHA:2584 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir... |
ORPHA:98813 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... |
OMIM:619846 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... |
OMIM:618048 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ... |
OMIM:618986 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thromb... |
OMIM:301074 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Skin ulcer |
ORPHA:352723 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... |
OMIM:604416 |
Necrobiosis Lipoidica |
|
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology |
ORPHA:542592 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Skin ulcer, Anemia, Neutropen... |
ORPHA:47 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... |
OMIM:615468 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... |
OMIM:615816 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia |
ORPHA:848 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Prolidase Deficiency |
|
Petechiae, Splenomegaly, Recurrent pneumonia, Skin ulcer, Recurrent infections, Anemia, Thrombocy... |
OMIM:170100 |
Calciphylaxis |
|
Sepsis, Skin ulcer |
ORPHA:280062 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Recurrent respiratory infections, Skin ulcer |
ORPHA:834 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Splenomegaly, Sepsis... |
ORPHA:379 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... |
ORPHA:183675 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Chilblain Lupus |
|
Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... |
OMIM:308230 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Sepsis, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Petechiae, Sepsis, Anemia, Leukopenia, Recurrent bacterial in... |
OMIM:617053 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer |
ORPHA:2500 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Erythema, Skin ulcer, Recur... |
ORPHA:1334 |
Ollier Disease |
|
Skin ulcer, Anemia |
ORPHA:296 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Acute Radiation Syndrome |
|
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Eosinophilia, Skin ulcer, Recurrent infections, Skin vesicle |
ORPHA:2314 |
Pyoderma Gangrenosum |
|
Skin vesicle, Myeloid leukemia, Skin ulcer |
ORPHA:48104 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Recurrent infections, T lymphocytopenia, B l... |
OMIM:619381 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Recurrent cystitis, Splenomegaly, Erythema, Skin ulcer, Dry skin |
ORPHA:742 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual CNS in... |
ORPHA:228119 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... |
OMIM:615966 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Recurrent infections, L... |
OMIM:615688 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... |
ORPHA:3243 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Petechiae, Mi... |
ORPHA:906 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Cutis laxa, Leukopenia, ... |
OMIM:300972 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Skin ulcer |
ORPHA:1806 |
Takayasu Arteritis |
|
Skin ulcer, Anemia |
ORPHA:3287 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Cryoglobulinemic Vasculitis |
|
Splenomegaly, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Skin ulcer |
ORPHA:2176 |
Meige Disease |
|
Recurrent bacterial skin infections, Skin ulcer |
ORPHA:90186 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Lichen Planopilaris |
|
Skin ulcer |
ORPHA:525 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Reynolds Syndrome |
|
Infectious encephalitis, Skin ulcer |
ORPHA:779 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Erythema, Sepsis, Skin ulcer, Anemia, Neutropenia, Thrombocytop... |
ORPHA:537 |
Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia |
ORPHA:542643 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections |
OMIM:248500 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia |
OMIM:615895 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
ORPHA:1657 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Postinfectious Vasculitis |
|
Palpable purpura, Persistent human papillomavirus infection, Severe varicella zoster infection, I... |
ORPHA:48435 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Infantile Myofibromatosis |
|
Skin ulcer |
ORPHA:2591 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer |
ORPHA:659 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Giant Cell Arteritis |
|
Recurrent pharyngitis, Meningitis, Skin ulcer |
ORPHA:397 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Ski... |
ORPHA:1775 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:37 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Werner Syndrome |
|
Lack of skin elasticity, Skin ulcer |
ORPHA:902 |
Cushing Disease |
|
Leukocytosis, Recurrent cutaneous fungal infections, Skin ulcer, Decreased eosinophil count, Ecch... |
ORPHA:96253 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Skin ulcer, Dry skin, Leukopenia, Normochromic anemia, Decreased proportion of... |
ORPHA:289390 |
Immunoglobulin A Vasculitis |
|
Erythema, Infectious encephalitis, Skin ulcer, Purpura |
ORPHA:761 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Microscopic Polyangiitis |
|
Erythema, Skin ulcer |
ORPHA:727 |
Incontinentia Pigmenti |
|
Erythema, Infectious encephalitis, Eosinophilia, Skin ulcer |
ORPHA:464 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220393 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin |
ORPHA:221 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Skin ulcer, Granuloma, Infectious encephalitis, Increased red blood cell ... |
ORPHA:68 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Skin ulcer, Granulomatosis, Meningitis, Purpura |
ORPHA:900 |
Juvenile Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:93672 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer |
OMIM:608710 |
Hajdu-Cheney Syndrome |
|
Splenomegaly, Dry skin, Recurrent respiratory infections, Skin ulcer |
ORPHA:955 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Anemia, Leukopenia, Recurrent bacterial infections, Hemophagocytosis, Thrombo... |
ORPHA:470 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia |
ORPHA:3474 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Anemia, Ec... |
ORPHA:2072 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Erythema, Skin ulcer, Recurrent infections, Skin vesicle |
ORPHA:99921 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Skin ulcer |
ORPHA:2907 |
Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Recurrent respiratory infections, Skin ulcer, Thrombocytopenia |
ORPHA:534 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... |
ORPHA:171 |
Plague |
|
Splenomegaly, Sepsis, Skin ulcer, Dry skin, Meningitis |
ORPHA:707 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Recurrent cutaneous fungal infections, Skin ulcer, Decreased eosinophil count, Ecch... |
ORPHA:99889 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Erythema, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Systemic Sclerosis |
|
Acral ulceration, Digital ulcer |
ORPHA:90291 |
Malakoplakia |
|
Skin ulcer |
ORPHA:556 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Simple Cryoglobulinemia |
|
Purpura, Acral ulceration, Chronic lymphatic leukemia |
ORPHA:91139 |
Blau Syndrome |
|
Splenomegaly, Erythema, Skin ulcer, Dry skin, Anemia |
ORPHA:90340 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Acral ulceration |
OMIM:256800 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Skin ulcer, Sepsis, Anemia, Neutropenia |
ORPHA:95455 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Atypical Werner Syndrome |
|
Lack of skin elasticity, Skin ulcer |
ORPHA:79474 |
Leprosy |
|
Abnormality of the spleen, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Recurrent Staphylococcus aureus infections, Dry skin, Tooth abscess, Anemia |
ORPHA:642 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acral ulceration |
OMIM:256810 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |