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Management highlights the need for early genetic diagnosis and strict adherence to immunoglobulin replacement therapy, with outcomes shaped by treatment compliance and close monitoring.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/brutons-agammaglobulinemia-case-series-and-literature-review/420288/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/brutons-agammaglobulinemia-case-series-and-literature-review/420288.png","ImageObject",300,407,{"name":42,"@type":43},"WPS_1790064749","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-31","2026-09-28",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",9,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What causes Bruton’s agammaglobulinemia (XLA)?","Question",{"text":63,"@type":64},"XLA results from mutations in the BTK gene, which disrupts B-cell development and causes profound reductions in mature B cells and immunoglobulins.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How were the two pediatric patients diagnosed in this case series?",{"text":68,"@type":64},"Both patients were evaluated clinically and confirmed with genetic testing for BTK gene mutations after presentation with recurrent infections and related findings.",{"name":70,"@type":61,"acceptedAnswer":71},"Why is adherence to immunoglobulin replacement therapy emphasized?",{"text":72,"@type":64},"The series links strict adherence to improved infection control and stability, while poor adherence was associated with clinical deterioration and worse outcomes.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},420288,1790888859,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":111,"doc_module":4,"doc_module_name":25,"category_name":112,"show_sort_weight":113,"slug":114},8,"Research & Report",30,"research-report",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":102,"language":139,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":12,"update_tm":143,"read_time":144,"preview_page_count":4},3985747859154,"https://ap-avatar.wpscdn.com/davatar_276721f389ce27ea32af1340a28f341c","e-ISSN 1941-5923  \n© Am J Case Rep, 2025; 26: e949936 DOI: 10. 12659/AJCR.949936  \nReceived: 2025.05.21  \nAccepted: 2025.10.15  \nAvailable online: 2025.11.06  \nPublished: 2025.12.14  \nAuthors’ Contribution: Study Design A  \nData Collection B Statistical Analysis C Data Interpretation D Manuscript Preparation E Literature Search F Funds Collection G  \nACDE  \nACDE  \nBCF  \nBCD  \nBCDF  \nBC  \nDEF  \nABCDEF  \nCorresponding Author: Financial support: Conflict of interest:  \nBruton’s Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia  \n1 Ahmed Shamakhi*  \n2 Nabil Dhayhi  \n3 Shatha Matabi  \n3 Manal Maashi  \n3 Abdullah Dhaifallah Hamdi  \n4 Bander Ali  \n5 Fadhel Hazazi  \n3 Abdullah H. Alhamoud*  \n1 Department of Pediatric Immunology and Allergy, King Fahad Central Hospital, Jazan, Saudi Arabia  \n2 Department of Pediatric Infectious Disease, King Fahad Central Hospital, Jazan, Saudi Arabia  \n3 Department of Pediatrics, King Fahad Central Hospital, Jazan, Saudi Arabia  \n4 Laboratory Department, General Directorate Of Prisons Health, Jeddah, Saudi Arabia  \n5 Department of Pediatric Intensive Care, Jazan General Hospital, Jazan, Saudi Arabia  \n* Ahmed Shamakhi and Abdullah H. Alhamoud are co-principal investigators  \nAbdullah H. Alhamoud, e-mail: [Dr.Alhamoud1990@gmail.com](Dr.Alhamoud1990@gmail.com)  \nNone declared  \nNone declared  \nCase series  \nPatients: Male, 14-month-old • Male, 3-year-old  \nFinal Diagnosis: Bruton’s agammaglobulinemia  \nSymptoms: Recurrent respiratory infections • developmental regression • fever • cough • diarrhea •  \nfacial puffiness • periorbital edema • limb edema • abdominal distension • coarse facial features •  \nskin lesions • respiratory distress • decreased appetite • reduced activity • severe neutropen Clinical Procedure: —  \nSpecialty: Genetics • Immunology • Infectious Diseases • Pediatrics and Neonatology  \nObjective: Rare disease  \nBackground: X-linked agammaglobulinemia (XLA), also known as Bruton’s agammaglobulinemia, is a rare genetic disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene. This defect leads to a substantial reduction in B cells and immunoglobulins, predisposing patients to recurrent severe infections. Early diagnosis and regular immunoglobulin replacement therapy are essential for effective disease management.  \nCase Reports: This report describes 2 male pediatric patients diagnosed with XLA at King Fahad Central Hospital in Jizan, Saudi Arabia. The first case involved a 14-month-old boy with recurrent respiratory infections, developmental delay, and frequent hospital admissions. Despite receiving immunoglobulin replacement therapy, his condition deteriorated due to poor treatment adherence, ultimately resulting in death. The second case involved a 3-year-old boy with recurrent respiratory infections and severe neutropenia. Genetic testing confirmed a BTK gene mutation. Consistent intravenous immunoglobulin therapy and close monitoring improved infection control and clinical stability, although he remained at risk for infections.  \nConclusions: These cases emphasize the importance of early genetic diagnosis and strict adherence to immunoglobulin therapy in managing XLA. The differing outcomes underscore the critical role of treatment compliance in preventing severe complications and improving long-term prognosis. In regions with high consanguinity, genetic testing and family counseling are vital for early detection and optimal disease management.  \nKeywords: Agammaglobulinemia • Case Reports • Immunocompromised Host • Infections  \nFull-text PDF: [https://www.amjcaserep.com/abstract/index/idArt/949936](https://www.amjcaserep.com/abstract/index/idArt/949936)  \n2216  —  3  27  \nPublisher’s note: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be ev","cbCailIlAYWlPbKm","https://ap.wps.com/l/cbCailIlAYWlPbKm","pdf",760583,"English","# Introduction\n## XLA pathogenesis and diagnosis\n# Case series\n## Patient 1 clinical course\n## Patient 2 clinical course\n# Conclusions\n## Importance of early diagnosis and adherence","[{\"question\":\"What causes Bruton’s agammaglobulinemia (XLA)?\",\"answer\":\"XLA results from mutations in the BTK gene, which disrupts B-cell development and causes profound reductions in mature B cells and immunoglobulins.\"},{\"question\":\"How were the two pediatric patients diagnosed in this case series?\",\"answer\":\"Both patients were evaluated clinically and confirmed with genetic testing for BTK gene mutations after presentation with recurrent infections and related findings.\"},{\"question\":\"Why is adherence to immunoglobulin replacement therapy emphasized?\",\"answer\":\"The series links strict adherence to improved infection control and stability, while poor adherence was associated with clinical deterioration and worse outcomes.\"}]","Bruton’s Agammaglobulinemia - Case Series and Literature Review | PDF",1790620305,15]