{"doi":"10.21911/aai.033","title":"Mutation in BTK Gene Causing an Atypical Presentation of XLA","abstract":"Patients with X-linked agammaglobulinemia (XLA) are susceptible to bacterial infections particularly due to encapsulated pyogenic bacteria, organisms for which opsonization by antibody is a primary host defense. Additionally, enteroviral encephalitis and chronic diarrhea due to Giardia are seen in XLA. However, fungal infections are rarely present. In this report, we describe the case of a 17 monthold boy with absent BTK protein expression caused by a novel de-novo variant of the BTK gene, who presented with neutropenic fever and sepsis caused by Candida and Pseudomonas aeruginosa.","journal":"Asthma Allergy Immunology","year":2022,"id":292742,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9473,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":976816,"name":"Hande UCLER","orcid":"0000-0003-4722-1145","position":1,"is_corresponding":false},{"id":976817,"name":"Sevil Oskay Halaçlı","orcid":"0000-0003-1101-1779","position":2,"is_corresponding":false},{"id":976818,"name":"Çağman Tan","orcid":"0000-0001-6972-1349","position":3,"is_corresponding":false},{"id":976819,"name":"Nergiz Kendirci","orcid":"0000-0001-6122-5607","position":4,"is_corresponding":false},{"id":104143,"name":"Yu Zhang","orcid":"0000-0002-6904-0372","position":5,"is_corresponding":false},{"id":231244,"name":"Helen C. Su","orcid":"0000-0002-5582-9110","position":6,"is_corresponding":false},{"id":634511,"name":"Deniz Çağdaş","orcid":"0000-0003-2213-4627","position":7,"is_corresponding":false},{"id":634510,"name":"İlhan Tezcan","orcid":"0000-0001-7257-4554","position":8,"is_corresponding":false},{"id":976815,"name":"Saliha Esenboğa","orcid":"0000-0003-0562-9863","position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-19T00:30:46.209549Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}