title: [X-linked agammaglobulinemia in adults. Clinical evolution].
abstract: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels and clinically by extracellular bacterial infections which mainly compromise the respiratory tract as well as recurrent diarrheas. The mainstay of treatment is gammaglobulin replacement therapy, which allows most patients to reach adulthood with high quality of life. We analyzed the clinical features of 14 patients over 18 years of age with XLA diagnosis that received treatment in our unit from the year 2003, the date the first patient was derived, until 2015. The average age at which patients were referred was 20.4 years old; age at the last consult was 25.5. The average follow-up time was 59.8 months. Previously to being diagnosed all patients had suffered infections, most frequently respiratory. After diagnosis all were started on intravenous gammaglobulin replacement treatment and in spite of infections being reduced in severity and frequency, there were cases of severe disease with long term sequelae. At the beginning of our follow-up 35.7% presented impaired respiratory function with only one case being severe. In no cases during this period did the respiratory function worsen, nor were there severe clinical complications. Three patients were switched to subcutaneous immunoglobulin treatment with good tolerance. The number of XLA cases is increasing, as most reach the second decade of life without serious complications and remain free of severe infectious disease and further impairment of their respiratory functions with the treatment.
authors.affiliation: Unidad Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.
authors.forename: Orlando B
authors.initials: OB
authors.lastname: Giorgetti
authors.forename: María V
authors.initials: MV
authors.lastname: Paolini
authors.forename: Matías M
authors.initials: MM
authors.lastname: Oleastro
authors.forename: Diego S
authors.initials: DS
authors.lastname: Fernández Romero
mesh_terms: D000279:Administration, Cutaneous; D061605:Administration, Intravenous; D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000188:drug therapy*; D018450:Disease Progression; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000188:drug therapy*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage*; D008297:Male; D011788:Quality of Life; D012141:Respiratory Tract Infections / Q000209:etiology; D012189:Retrospective Studies; D055815:Young Adult; D005719:gamma-Globulins / Q000008:administration & dosage*
chemical_list: D016756:Immunoglobulins, Intravenous; D005719:gamma-Globulins
keywords: Bruton tyrosine kinase; X-linked agammaglobulinemia; intravenous immunoglobulin