Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Papular Xanthoma |
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Histiocytosis |
ORPHA:158008 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Benign Cephalic Histiocytosis |
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Histiocytosis |
ORPHA:157997 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia |
OMIM:608898 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency 11A |
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Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... |
OMIM:601859 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Reticular Dysgenesis |
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Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... |
ORPHA:2585 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... |
OMIM:603909 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Autoimmunity, Increased circulating IgE level, Lack of T cell function, Anti-thyroid peroxidase a... |
ORPHA:277 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased circula... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... |
OMIM:300853 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Neutropenia in presence of anti-neutropil ... |
ORPHA:572 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... |
OMIM:600802 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Abnormal lymphocyte physiology, Autoimmunity, Impaired T cell function |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Autoimmunity, Decreased lymphocyte proliferation in response to mit... |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
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Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... |
OMIM:301000 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... |
OMIM:618213 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
22Q11.2 Deletion Syndrome |
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Autoimmunity, Impaired T cell function |
ORPHA:567 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Impaired T cell function |
OMIM:188400 |