Analysis of 4 Cases of X-linked Agammaglobulinemia Complicated with Arthritis
JIA Donghua
JIN Yunfeng
LIU Ping
WEI Lei
LI Yuanzhe
Abstract：Objective To explore the clinical characteristics,key points of diagnosis and treatment,and prognosis of arthritis in children with X-linked agammaglobulinemia(XLA).Methods A retrospective analysis was conducted on the clinical manifestations,laboratory and imaging examinations,gene mutations and treatment responses of 4 children with arthritis among 12 children with XLA admitted to Henan Children's Hospital from September 2014 to September 2024.Results All 4 cases were male,and the incidence of arthritis was 33.3％(4/12).The onset age of arthritis is from 2 years and 2 months to 5 years and 3 months,mainly involving large joints such as the knees and hips.All children had a history of repeated infections(respiratory tract,otitis media,etc.),and physical examinations showed the absence of tonsils and superficial lymph nodes.Laboratory tests showed that the levels of serum immunoglobulins(IgG,IgA,IgM)were significantly decreased,and the count of CD19+B cells in peripheral blood was 0.Imaging examinations(ultrasound or magnetic resonance)all indicated thickening of the synovial membrane accompanied by effusion.Genetic testing confirmed the presence of Bruton tyrosine kinase gene mutations(2 cases of missense and 2 cases of nonsense mutations).After anti-infection treatment and regular intravenous immunoglobulin(IVIG),the joint symptoms of 3 children improved or were relieved.Among them,one case achieved satisfactory symptom control after the combination of non-steroidal anti-inflammatory drugs(NSAIDs).One case had persistent joint symptoms due to irregular IVIG treatment.Conclusion The incidence of arthritis in children with XLA is relatively high,and its occurrence may be related to infection and immune dysregulation.Early diagnosis and regular IVIG replacement therapy are the basis for controlling infection and joint symptoms.Some patients may require combination with NSAIDs.Improper treatment may affect the prognosis of the joint.
Keywords：X-linked agammaglobulinemiaarthritischildren
Publication Date：2026-05-13
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：5( 1588-1592 )