{"Name":"Immunodeficiency 67","DiseaseID__c":"GARD:0010311","id":10311,"encodedName":"immunodeficiency-67","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency 67","Xref_IDs__c":"C1843256; C564352; MEDGEN:375137; MONDO:0011888; OMIM:607676; ORPHA:70592","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011888","Disease_Description__c":"Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.","GARD_Name__c":"Immunodeficiency 67","GARD_Synonym__c":"immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency; interleukin-1 receptor-associated kinase 4 deficiency; invasive pneumococcal disease, recurrent isolated, 1; invasive pneumococcal disease, recurrent isolated, type 1; irak-4 - interleukin-1 receptor-associated kinase 4 deficiency; irak4 deficiency","Curated_Disease_Description_Source__c":"GARD:0010311","Curated_Disease_Description__c":"IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age. Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:70592","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011888","ORPHANET_ID__c":"ORPHA:70592","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Predisposición transitoria a la infección bacteriana piógena invasiva","Spanish_Description_Source__c":"ORPHA:70592","Spanish_Description__c":"La deficiencia de quinasa 4 asociada al receptor de la interleucina 1 (IRAK-4) es una inmunodeficiencia ligada a una mayor susceptibilidad a las infecciones invasivas causadas por bacterias piógenas.","Spanish_Disease_Name__c":"predisposición transitoria a la infección bacteriana piógena invasiva","Spanish_GARD_Synonym__c":null,"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":"IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age. Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.","Curated_Disease_Description_Source__c":"GARD:0010311","GARD_Synonym__c":"immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency; interleukin-1 receptor-associated kinase 4 deficiency; invasive pneumococcal disease, recurrent isolated, 1; invasive pneumococcal disease, recurrent isolated, type 1; irak-4 - interleukin-1 receptor-associated kinase 4 deficiency; irak4 deficiency","Name":"Immunodeficiency 67","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":"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":"Childhood","Provided_By__c":"ORPHA:70592"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843256"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010311","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/607676","Source__c":"C1843256; MONDO:0011888; ORPHA:70592","Xref__c":"OMIM:607676"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375137","Source__c":"C1843256","Xref__c":"MEDGEN:375137"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843256","Source__c":"C1843256","Xref__c":"C1843256"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564352","Source__c":"MONDO:0011888","Xref__c":"C564352"},{"URL__c":"https://www.orpha.net/en/disease/detail/70592","Source__c":"C1843256; MONDO:0011888; ORPHA:70592","Xref__c":"ORPHA:70592"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011888","Source__c":"GARD:0010311","Xref__c":"MONDO:0011888"},{"URL__c":"https://medlineplus.gov/genetics/condition/irak-4-deficiency","Source__c":"GARD:0010311","Xref__c":"https://medlineplus.gov/genetics/condition/irak-4-deficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699869003","Source__c":"C1843256","Xref__c":"699869003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IRAK4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/irak4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70592","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70592","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005366","HPO_Name__c":"Recurrent streptococcus pneumoniae infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70592","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70592","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:70592","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007499","HPO_Synonym__c":"Recurrent staphylococcal infections","HPO_Name__c":"Recurrent staphylococcal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70592","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70592","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"," interleukin-1 receptor-associated kinase 4 deficiency"," invasive pneumococcal disease, recurrent isolated, 1"," invasive pneumococcal disease, recurrent isolated, type 1"," irak-4 - interleukin-1 receptor-associated kinase 4 deficiency"," irak4 deficiency"]}