| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis |
OMIM:614493 |
| Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... |
OMIM:607594 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... |
OMIM:615615 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... |
OMIM:617241 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir... |
ORPHA:277 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent sinusiti... |
OMIM:300853 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... |
OMIM:308230 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... |
OMIM:619774 |
| Immunodeficiency 81 |
|
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... |
OMIM:619374 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... |
OMIM:209920 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Chronic mucocutaneous candidiasis, Lac... |
ORPHA:572 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... |
OMIM:600802 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyoderma, Bronchiec... |
OMIM:242700 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Reduced delayed hypersensitivity, Malar rash, Increased circulating IgA level, Increas... |
OMIM:603909 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis |
ORPHA:85435 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... |
ORPHA:158061 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... |
OMIM:618213 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... |
ORPHA:3261 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Atyp... |
ORPHA:83471 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, A... |
OMIM:613179 |
| Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... |
ORPHA:79124 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... |
OMIM:301000 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Minimal change glomerulonephritis, Impaired T cell function, Abnorma... |
ORPHA:1830 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... |
OMIM:181000 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function |
OMIM:176690 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Seborrheic dermatitis, Arthritis, Acne, Chronic otitis media |
ORPHA:567 |
| Digeorge Syndrome |
|
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Sebor... |
OMIM:188400 |
