{"Name":"Immunodeficiency due to CD25 deficiency","DiseaseID__c":"GARD:0017049","id":17049,"encodedName":"immunodeficiency-due-to-cd25-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency due to CD25 deficiency","Xref_IDs__c":"C1853392; C565232; DOID:0111968; MEDGEN:377894; MONDO:0011664; OMIM:606367; ORPHA:169100","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:169100","Disease_Description__c":"Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.","GARD_Name__c":"Immunodeficiency due to CD25 deficiency","GARD_Synonym__c":"cd25 deficiency; il2ra deficiency; immunodeficiency 41 with lymphoproliferation and autoimmunity; interleukin 2 receptor alpha chain deficiency; interleukin-2 receptor alpha chain deficiency","Curated_Disease_Description_Source__c":"ORPHA:169100","Curated_Disease_Description__c":"A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:169100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011664","ORPHANET_ID__c":"ORPHA:169100","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia de cd25","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia de cd25","Spanish_GARD_Synonym__c":"deficiencia de cadena alpha del receptor de la interleuquina 2","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.","Curated_Disease_Description_Source__c":"ORPHA:169100","GARD_Synonym__c":"cd25 deficiency; il2ra deficiency; immunodeficiency 41 with lymphoproliferation and autoimmunity; interleukin 2 receptor alpha chain deficiency; interleukin-2 receptor alpha chain deficiency","Name":"Immunodeficiency due to CD25 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:169100"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/169100","Source__c":"C1853392; MONDO:0011664","Xref__c":"ORPHA:169100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377894","Source__c":"C1853392","Xref__c":"MEDGEN:377894"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853392","Source__c":"C1853392","Xref__c":"C1853392"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565232","Source__c":"MONDO:0011664","Xref__c":"C565232"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111968","Source__c":"MONDO:0011664","Xref__c":"DOID:0111968"},{"URL__c":"https://www.omim.org/entry/606367","Source__c":"C1853392; MONDO:0011664; ORPHA:169100","Xref__c":"OMIM:606367"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011664","Source__c":"GARD:0017049","Xref__c":"MONDO:0011664"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL2RA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of lymphocytes in the interstitium of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033582","HPO_Name__c":"Pulmonary interstitial lymphocyte infiltration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032170","HPO_Name__c":"Severe varicella zoster infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002841","HPO_Synonym__c":"Recurrent fungal infections","HPO_Name__c":"Recurrent fungal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100646","HPO_Synonym__c":"Thyroid gland inflammation","HPO_Name__c":"Thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of all hair on the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002289","HPO_Synonym__c":"Alopecia, complete","HPO_Name__c":"Alopecia universalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031382","HPO_Synonym__c":"Decreased lymphocyte proliferation in response to anti-CD3; Defective lymphocyte proliferation to anti-CD3; Defective proliferation of lymphocytes following anti-CD3 stimulation","HPO_Name__c":"Decreased anti-CD3/28-induced T-cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The enteric villi are atrophic or absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011473","HPO_Synonym__c":"Atrophy of small intestinal villi; Villous degeneration","HPO_Name__c":"Villous atrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002232","HPO_Synonym__c":"Alopecia areata; Patchy baldness","HPO_Name__c":"Patchy alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002848","HPO_Synonym__c":"Depressed antibody response to polysaccharide antigens; Low specific anti-polysaccharide antibody titer; Specific anti-polysaccharide antibody deficiency","HPO_Name__c":"Decreased specific anti-polysaccharide antibody level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033222","HPO_Synonym__c":"Decreased CD4:CD8 ratio; Inverted CD4/CD8 ratio","HPO_Name__c":"Inverted CD4:CD8 ratio","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009098","HPO_Synonym__c":"Chronic oral thrush","HPO_Name__c":"Chronic oral candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004429","HPO_Name__c":"Recurrent viral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011120","HPO_Synonym__c":"Boxer's nasal deformity; Boxer's nose deformity; Concave dorsum of nose; Concave nasal dorsum; Saddle nose; Saddle shaped nasal dorsum; Ski jump nose","HPO_Name__c":"Concave nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030812","HPO_Synonym__c":"Enlargement of tonsils; Tonsillar hypertrophy; tonsils large/hypertrophy","HPO_Name__c":"Enlarged tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606367","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020113","HPO_Synonym__c":"Decreased proportion of CD4+CD25+ regulatory T cells; Decreased proportion of CD4+CD25+ Treg cells; Decreased proportion of regulatory T cells; Reduced proportion of CD4+CD25+ regulatory T cells","HPO_Name__c":"Decreased regulatory T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cd25 deficiency"," il2ra deficiency"," immunodeficiency 41 with lymphoproliferation and autoimmunity"," interleukin 2 receptor alpha chain deficiency"," interleukin-2 receptor alpha chain deficiency"]}