{"Name":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","DiseaseID__c":"GARD:0017486","id":17486,"encodedName":"autoinflammation-plcg2-associated-antibody-deficiency-immune-dysregulation","IsDeleted":false,"Disease_Name_Full__c":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","Xref_IDs__c":"778004006; C3553961; DOID:0070615; MEDGEN:766875; MONDO:0013944; OMIM:614878; ORPHA:324530","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:324530","Disease_Description__c":"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.","GARD_Name__c":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","GARD_Synonym__c":"aplaid; aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation syndrome; autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated","Curated_Disease_Description_Source__c":"ORPHA:324530","Curated_Disease_Description__c":"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:324530","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013944","ORPHANET_ID__c":"ORPHA:324530","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Autoinflamación-deficiencia de anticuerpos asociada a plcg2-desregulación inmunológica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"autoinflamación-deficiencia de anticuerpos asociada a plcg2-desregulación inmunológica","Spanish_GARD_Synonym__c":"aplaid","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, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.","Curated_Disease_Description_Source__c":"ORPHA:324530","GARD_Synonym__c":"aplaid; aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation syndrome; autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated","Name":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324530"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:324530"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/324530","Source__c":"C3553961; MONDO:0013944; ORPHA:324530","Xref__c":"ORPHA:324530"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3553961","Source__c":"C3553961","Xref__c":"C3553961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766875","Source__c":"C3553961","Xref__c":"MEDGEN:766875"},{"URL__c":"https://www.omim.org/entry/614878","Source__c":"C3553961; MONDO:0013944; ORPHA:324530","Xref__c":"OMIM:614878"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013944","Source__c":"GARD:0017486","Xref__c":"MONDO:0013944"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778004006","Source__c":"C3553961","Xref__c":"778004006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070615","Source__c":"MONDO:0013944","Xref__c":"DOID:0070615"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLCG2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plcg2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","Feature__r":{"HPO_Description__c":"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002958","HPO_Synonym__c":"Immune dysregulation; Unregulated immune response","HPO_Name__c":"Immune dysregulation","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the bronchioles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011950","HPO_Name__c":"Bronchiolitis","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030388","HPO_Synonym__c":"Decreased proportion of CD19+CD27+IgD- cells; Decreased proportion of class-switched memory B cells","HPO_Name__c":"Decreased class-switched memory B cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006515","HPO_Name__c":"Interstitial pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","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:614878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100279","HPO_Synonym__c":"Colitis ulcerosa","HPO_Name__c":"Ulcerative colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004387","HPO_Name__c":"Enterocolitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614878","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Pediatrics"]},"synonyms":["aplaid"," aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation"," autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation"," autoinflammation, antibody deficiency, and immune dysregulation"," autoinflammation, antibody deficiency, and immune dysregulation syndrome"," autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated"]}