{"Name":"Combined immunodeficiency with skin granulomas","DiseaseID__c":"GARD:0013587","id":13587,"encodedName":"combined-immunodeficiency-with-skin-granulomas","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency with skin granulomas","Xref_IDs__c":"C2673536; C567115; DOID:0112253; MEDGEN:435945; MONDO:0009306; OMIM:233650; ORPHA:157949","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0013587","Disease_Description__c":"Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoinmunity where the immune system attacks the body itself. Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain-Barré syndrome. It is caused by genetic changes in the RAG1 and/or RAG2 genes. These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The genetic changes can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life.","GARD_Name__c":"Combined immunodeficiency with skin granulomas","GARD_Synonym__c":"cid due to rag 1/2 deficiency; combined immunodeficiency due to rag 1/2 deficiency; combined immunodeficiency with granulomatosis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Combined immunodeficiency with granulomatosis is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoinmunity where the immune system attacks the body itself. Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain-Barré syndrome. It is caused by genetic changes in the RAG1 and/or RAG2 genes. These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The genetic changes can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:157949","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009306","ORPHANET_ID__c":"ORPHA:157949","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada con granulomatosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada con granulomatosis","Spanish_GARD_Synonym__c":"cid por deficiencia de rag 1/2; inmunodeficiencia combinada por deficiencia de rag 1/2","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":"Combined immunodeficiency with granulomatosis is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoinmunity where the immune system attacks the body itself. Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain-Barré syndrome. It is caused by genetic changes in the RAG1 and/or RAG2 genes. These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The genetic changes can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cid due to rag 1/2 deficiency; combined immunodeficiency due to rag 1/2 deficiency; combined immunodeficiency with granulomatosis","Name":"Combined immunodeficiency with skin granulomas","estimateUsa":""}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013587","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/233650","Source__c":"C2673536; MONDO:0009306; ORPHA:157949","Xref__c":"OMIM:233650"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673536","Source__c":"C2673536","Xref__c":"C2673536"},{"URL__c":"https://www.orpha.net/en/disease/detail/157949","Source__c":"C2673536; MONDO:0009306","Xref__c":"ORPHA:157949"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112253","Source__c":"MONDO:0009306","Xref__c":"DOID:0112253"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=435945","Source__c":"C2673536","Xref__c":"MEDGEN:435945"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567115","Source__c":"MONDO:0009306","Xref__c":"C567115"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009306","Source__c":"GARD:0013587","Xref__c":"MONDO:0009306"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rag1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAG2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rag2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:233650","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:233650","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:233650","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:233650","Feature__r":{"HPO_Description__c":"A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005387","HPO_Name__c":"Combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:233650","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Immunology","Dermatology"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["cid due to rag 1/2 deficiency"," combined immunodeficiency due to rag 1/2 deficiency"," combined immunodeficiency with granulomatosis"]}