关键词: 无丙种球蛋白血症；反复感染；X染色体

Abstract:

Objective    To explore clinical features, therapeutics and prognosis of X-linked agammaglobulinemia(XLA). Methods    9 confirmed XLA patients were analyzed by detecting the peripheral level of immunoglobulin and molecules on the cells′ surface. Clinical features were reviewed. BTK (Bruton′s tyrosine kinase ) gene  sequencing were performed in 2 cases. Results    Recurrent upper respiratory infections and pneumonia were found in all patients. Refractory otitis(3/9) and  purulent arthritis (4/9) were common. Skin infection(1/9), paralysis of legs(1/9), dilated cardiomyopathy(1/9), chronic diarrhea(1/9) and polyarthritis(1/9) appeared in different cases. All but one cases showed normal growth and development. The prominent signs at diagnosis were markedly decreased or absent tonsils and lymph nodes. Concentration of  serum immunoglobulins (Igs) and numbers of peripheral B cells in all cases were dramatically decreased. Two cases demonstrated mutations  of the BTK genes. Conclusion    XLA is preventable and curable. Standard treatment can yield good prognosis.

Key words: Agammaglobulinemia; Recurrent infection; X-chromosome