Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... |
OMIM:300400 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T... |
ORPHA:277 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Familial Reactive Perforating Collagenosis |
|
Abnormal pinna morphology, Inflammatory abnormality of the skin, Abnormal epidermal morphology, P... |
ORPHA:79147 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Hypotrichosis Simplex Of The Scalp |
|
Epidermal acanthosis, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Scaling skin, Pruritu... |
ORPHA:90368 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... |
OMIM:214450 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Scaling skin, Pruritus, Erythroderma, Increased circulating IgE level |
OMIM:270300 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... |
OMIM:613101 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling ... |
ORPHA:530838 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin |
ORPHA:464318 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Psoriasis 2 |
|
Epidermal acanthosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin, Parakeratosis |
OMIM:602723 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Epidermolytic Hyperkeratosis |
|
Erythroderma, Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:113800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... |
OMIM:308240 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Decreased circulating total IgM,... |
OMIM:243700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Chromosome breakage, Splenomegaly, Lym... |
OMIM:609981 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Eosinophilia, Erythema, Chronic mucocutaneous candidiasis, Recu... |
OMIM:147060 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Neutropen... |
OMIM:613501 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... |
OMIM:102700 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... |
OMIM:618282 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Increased circulating IgA level, Splenomegaly, Corneal neovascularization, ... |
OMIM:617388 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... |
OMIM:616100 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Reduced delayed hyper... |
OMIM:603909 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, Orthokeratosis, White scaling skin, Acanthocytosis, Erythroderma, Palmoplan... |
OMIM:604777 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent skin inf... |
OMIM:619752 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Pruritus, Leukemia |
ORPHA:157991 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Epidermal acanthosis, Orthokeratosis, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Palmo... |
OMIM:612281 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P... |
ORPHA:90280 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Bone m... |
OMIM:605724 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An... |
OMIM:617243 |
Immunodeficiency 58 |
|
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Decre... |
OMIM:618131 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Autoimmunity, Nail pits |
OMIM:104000 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Excessive wrinkling of palmar skin, Scaling skin |
ORPHA:263534 |
Felty Syndrome |
|
Sepsis, Generalized hyperpigmentation, Pericarditis, Rhinitis, Lymphadenopathy, Irregular hyperpi... |
ORPHA:47612 |
Pemphigus Foliaceus |
|
Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr... |
ORPHA:79481 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Scaling skin, Pruritus |
ORPHA:90158 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM, Telangiectases of the cheeks |
OMIM:615139 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Pruritus |
OMIM:607685 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis |
ORPHA:26137 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy |
OMIM:300719 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615022 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk... |
ORPHA:284426 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Thrombocytopenia, Scaling skin, Chilblains |
OMIM:612952 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic sinusitis, B... |
ORPHA:443811 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis |
OMIM:615522 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity |
OMIM:609054 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, Delayed puberty, Di... |
ORPHA:100 |
Whim Syndrome 2 |
|
Chronic neutropenia, Recurrent gingivitis |
OMIM:619407 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Alopecia, Sepsis, Chronic otitis media, Abnormality of the l... |
ORPHA:47 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... |
OMIM:616050 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... |
ORPHA:911 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... |
OMIM:614700 |
Mal De Meleda |
|
Epidermal acanthosis, Inflammatory abnormality of the skin, Erythema, Superficial dermal perivasc... |
ORPHA:87503 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis, Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythrod... |
ORPHA:330064 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Angular cheilitis |
OMIM:616295 |
Netherton Syndrome |
|
Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Increased ci... |
OMIM:256500 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:615028 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
N Syndrome |
|
Cryptorchidism, Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:617115 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Immunodeficiency 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Lymphopenia, Vasculitis in the s... |
OMIM:615816 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:101900 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus |
OMIM:606952 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Hyperkeratosis, Scaling skin, Dry skin |
OMIM:609180 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papu... |
ORPHA:79100 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Perioral erythema, Pustule, Perianal erythema, Erythroderma, Increased circulating I... |
OMIM:614328 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Arthritis |
ORPHA:2582 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune th... |
OMIM:304790 |
Bathing Suit Ichthyosis |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin, Erythroderma, Parakeratosis |
ORPHA:100976 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Wells Syndrome |
|
Skin vesicle, Eosinophilia, Pruritus |
ORPHA:901 |
Panniculitis-Induced Localized Lipodystrophy |
|
Erythema, Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Vasculitis in the ... |
ORPHA:90159 |
Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma |
ORPHA:2897 |
Bazex Syndrome |
|
Hyperkeratosis, Scaling skin, Pruritus, Palmoplantar keratoderma, Anemia, Parakeratosis |
ORPHA:166113 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, A... |
OMIM:616740 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin, Cutis laxa, Pruritus |
OMIM:105250 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis |
OMIM:234350 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculopapular exanthema, ... |
ORPHA:79455 |
Roifman Syndrome |
|
Eosinophilia, Eczema, Hepatosplenomegaly, Noncompaction cardiomyopathy, Decreased circulating ant... |
ORPHA:353298 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma |
OMIM:607936 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis, Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, Aplastic anemia... |
OMIM:300635 |
Wiskott-Aldrich Syndrome |
|
Melena, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed hyperse... |
OMIM:301000 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Lymphadenopathy, Splenomegaly, Abnormal dense granules, Recurrent systemic pyog... |
OMIM:214500 |
Ichthyosis With Confetti |
|
Erythroderma, Scaling skin, Pruritus, Palmoplantar hyperkeratosis |
OMIM:609165 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... |
ORPHA:90362 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:615024 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis, Pruritus |
ORPHA:280785 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Sézary Syndrome |
|
Splenomegaly, Dry skin, Abnormal immunoglobulin level, Pruritus, Erythroderma, Palmoplantar kerat... |
ORPHA:3162 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... |
OMIM:300755 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Recurrent skin infections, Pulmonic stenosis, Acantholysis, Erythroderma, Palmopl... |
OMIM:615508 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Follicular hyperkeratosis, Allergic rhinitis, Pruritus, Erythroderma |
OMIM:608649 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Chromosome breakage, Abnormality of the thymus, Leukemia, Abnorm... |
OMIM:208910 |
Cinca Syndrome |
|
Skin rash, Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Hearing im... |
OMIM:607115 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial albinism, Iris hyp... |
ORPHA:79477 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer |
ORPHA:312 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, Erythema, Myocarditis,... |
ORPHA:139402 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Reticular Dysgenesis |
|
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Increased circulating antibody level, Vasculitis in the skin, Skin rash |
ORPHA:90000 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:615577 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Cheilitis, Pallor, Eosinophilia, Decreased circulating antibody level, Panc... |
ORPHA:90045 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Recurrent skin infections, Recurrent sinusitis, Decreased circulating antib... |
OMIM:616576 |
Icf Syndrome |
|
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Abnormalit... |
ORPHA:2268 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... |
OMIM:240500 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Pruritus, Skin ulcer, Skin ... |
ORPHA:2314 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... |
OMIM:619165 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Specific Granule Deficiency 2 |
|
Nail dysplasia, Intractable diarrhea, Neutropenia, Hirsutism, Fragile nails, Sepsis, Recurrent ba... |
OMIM:617475 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Eczema, Leukopenia, Dry skin, Decreased circulating antibody level, Bone marrow hypocellu... |
OMIM:618116 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Skin rash, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis,... |
OMIM:603552 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Ovarian neoplasm, Chromosome breakage |
OMIM:617883 |
Omenn Syndrome |
|
Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology, Pruritus, Pne... |
ORPHA:39041 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperkeratosis, Punctate keratitis... |
OMIM:602540 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... |
OMIM:208900 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Ulerythema Ophryogenesis |
|
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa... |
ORPHA:3406 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis |
OMIM:617526 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myelocyte count, Osteomy... |
ORPHA:36234 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Lymphadenitis,... |
ORPHA:31205 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... |
OMIM:615122 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Diarrhea, Recurrent infections, Neutropenia, Thrombocytopenia, Folate-responsive mega... |
OMIM:229050 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:617525 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Hypotension, Scaling skin,... |
ORPHA:79456 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Decreased circulating antibody level, Decreased proportion ... |
OMIM:301045 |
Immunodeficiency 49 |
|
Inflammatory abnormality of the skin, Lymphopenia, Cutis laxa, Eosinophilia, Posteriorly rotated ... |
OMIM:617237 |
Rare Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Deep dermal perivascular inflammatory infiltrate, Telangiectasia o... |
ORPHA:535 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Vomiting, Anti-thyroid peroxidase... |
ORPHA:37042 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Short eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly eyelashes, Chronic... |
OMIM:258360 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Epidermal acanthosis, Orthokeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin o... |
ORPHA:79395 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormality of the lymphatic system, Abnorm... |
ORPHA:229717 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, In... |
ORPHA:449400 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis |
ORPHA:3165 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Lymphopenia, Cryptorchidism, Decreased circulating IgG level, Se... |
OMIM:620005 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Agammaglobulinemia, Recurrent otitis media, Arthritis |
OMIM:300310 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreas... |
OMIM:618495 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent i... |
OMIM:613652 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Eosinophilia, Palpitatio... |
ORPHA:75566 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis |
OMIM:615023 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis, Autoimmunity |
OMIM:216950 |
Kid Syndrome |
|
Keratitis, Acne inversa, Punctate keratitis, Severe sensorineural hearing impairment, Angular che... |
ORPHA:477 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... |
OMIM:203200 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent skin infections, Otitis media, Re... |
ORPHA:2686 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
Psoriasis 14, Pustular |
|
Epidermal acanthosis, Oligoarthritis, Parakeratosis, Neutrophilia, Pustule, Leukocytosis, Erythem... |
OMIM:614204 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Hyperkeratosis, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... |
OMIM:209920 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells, Decreased response to growth hormone stimulation test, Delayed pubert... |
OMIM:307200 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Lamellar Ichthyosis |
|
Abnormal helix morphology, Lack of skin elasticity, Chronic otitis media, Dry skin, Hyperkeratosi... |
ORPHA:313 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Chromosome breakage |
OMIM:615272 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... |
ORPHA:508542 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Hemophagocytosis, Maculopapular exanthema, Chronic hepatiti... |
ORPHA:39812 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Gastroesophageal reflux, Chronic oral candidiasi... |
OMIM:608233 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia, Eczema, Noncompaction cardiomyopathy, Recurrent pneumonia, Recurrent ... |
OMIM:616651 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis |
OMIM:242300 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... |
ORPHA:420741 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Eosinophilia, Endocarditis, Myositis, ... |
ORPHA:183 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati... |
ORPHA:98849 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology |
ORPHA:2786 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... |
OMIM:180080 |
Netherton Syndrome |
|
Skin rash, Eczema, Dry skin, Decreased circulating antibody level, Erythroderma, Increased circul... |
ORPHA:634 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Arthritis, Hyperpigmentation of the skin, Neutropenia, Anemia |
OMIM:604250 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Intracranial hemorrhage, Hepatitis, Infectious... |
ORPHA:1163 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ... |
OMIM:300918 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... |
ORPHA:79124 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Diarrhea, Chronic otitis ... |
ORPHA:33110 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis |
ORPHA:2902 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Low-set ears, Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia |
OMIM:618999 |
Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:610282 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Bone marrow hypocellularit... |
OMIM:609053 |
Acquired Partial Lipodystrophy |
|
Decreased serum complement C3, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... |
ORPHA:79397 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Erythema, Palmoplantar scaling skin |
ORPHA:281127 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb... |
ORPHA:158057 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Recurrent pneumonia, Pustule, Epidermal acanthosis |
OMIM:616069 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibody positivity,... |
ORPHA:464370 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
Dermatitis, Atopic |
|
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic... |
OMIM:603165 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypopigmented skin patches on arms, Neutropenia, Lymphopenia, Hypermelanotic macule, Systemic lup... |
OMIM:607944 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Hearing impairment |
ORPHA:79394 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented fr... |
OMIM:601706 |
Oculotrichodysplasia |
|
Scaling skin, Dry skin |
OMIM:257960 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Atopic dermatitis, Eosinophilia, Hematochezia, Allergic rhinitis, Anemia |
ORPHA:2070 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc... |
OMIM:251260 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... |
ORPHA:79433 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia... |
OMIM:614034 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural kil... |
OMIM:603553 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Constipation, Abnormal macular ... |
ORPHA:897 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Erythema, Pruritus, Paraker... |
ORPHA:83453 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Myositis |
OMIM:253600 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Leukopenia, Bone marrow hy... |
OMIM:603467 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy... |
ORPHA:2199 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis |
OMIM:215250 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, H... |
OMIM:617053 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... |
OMIM:612301 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Decreased circulating antibo... |
ORPHA:169105 |
Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia |
OMIM:614038 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Sepsis, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Alopecia, Leukopenia, Anti-aquaporin 4... |
OMIM:301080 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Blepharitis, Recurrent bacterial skin infections, Pustule, Erythema, Scaling skin, Chapped lip, P... |
ORPHA:294023 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Rec... |
OMIM:608809 |
Bloom Syndrome |
|
Decreased circulating IgA level, Type II diabetes mellitus, Decreased circulating IgG level, Chro... |
OMIM:210900 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Generalized seborrheic dermatitis, Decreased serum complem... |
OMIM:609536 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Pruritus, Palmoplantar keratoderma |
ORPHA:454 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Dry skin, Follicular hyperkeratosis, Scaling skin, Erythroderma, Hearing impairment |
OMIM:308205 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Macular degeneration, Abnormality of macular pigment... |
ORPHA:1573 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:83313 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Cryptorchidism, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Chro... |
OMIM:600901 |
Coccidioidomycosis |
|
Pancreatitis, Abscess, Pneumonia, Pruritus, Pericarditis, Osteomyelitis, Peritonitis, Increased c... |
ORPHA:228123 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Aplastic anemia |
OMIM:610832 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... |
ORPHA:167 |
Poikiloderma With Neutropenia |
|
Blepharitis, Neutropenia, Reticular hyperpigmentation, Recurrent bronchopulmonary infections, Ski... |
OMIM:604173 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg... |
OMIM:612541 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment, Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat... |
ORPHA:381 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Abnormality of skin pigmentation, Cone dystrophy |
OMIM:268040 |
|