{"doi":"10.1016/j.jaip.2024.09.018","title":"Severe clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease","abstract":"Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by severe recurrent bacterial and fungal infections. Noninfectious manifestations include inflammatory disorders affecting the liver, genitourinary tract, lungs, and skin.1 The most common form of CGD is X-linked (XL) (CYBB pathogenic variant), occurring primarily in males. In female heterozygous XL-CGD carrier relatives, one X chromosome is inactivated in every cell, known as random X-inactivation (Lyonization).","journal":"The Journal of Allergy and Clinical Immunology In Practice","year":2024,"id":429530,"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":8,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9615,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":713486,"name":"M. Elizabeth M. Younger","orcid":null,"position":1,"is_corresponding":false},{"id":762445,"name":"Kelli W. Williams","orcid":"0000-0003-2318-6023","position":2,"is_corresponding":false},{"id":280228,"name":"Joao Pedro Matias Lopes","orcid":null,"position":3,"is_corresponding":false},{"id":231246,"name":"Douglas B. Kuhns","orcid":"0000-0002-9971-0760","position":4,"is_corresponding":false},{"id":1077634,"name":"Meera Patel","orcid":"0009-0003-4473-0320","position":5,"is_corresponding":false},{"id":1231046,"name":"Mary Ann Miranda","orcid":null,"position":6,"is_corresponding":false},{"id":363058,"name":"Beatriz E. Marciano","orcid":null,"position":7,"is_corresponding":false},{"id":583030,"name":"Christin Deal","orcid":null,"position":8,"is_corresponding":false},{"id":295450,"name":"Jennifer W. Leiding","orcid":"0000-0002-7573-9390","position":9,"is_corresponding":false},{"id":846628,"name":"Niraj Patel","orcid":"0000-0002-3657-145X","position":0,"is_corresponding":true}],"reference_count":8,"raw_metadata":null,"created_at":"2026-07-19T01:59:11.328802Z","pmid":"39332496","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":[]}