Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.
BACKGROUND
Argentina has a large number of patients with definite diagnosis of X-linked agammaglobulinemia reported in the Latin-American registry. Forty-nine of them were seen in our referral pediatric hospital, between 1987 and 2005.


CONCLUSIONS
A retrospective study of clinical, laboratory, and molecular data showed that respiratory tract infections were the most frequent initial clinical presentation and the most common among all manifestations prior to diagnosis (69%). Up to diagnosis, we found a high frequency of severe infections (sepsis, 14% and meningitis, 16%) and a high proportion of patients with chronic lung disease. During follow-up, the development of chronic lung disease was significantly related with age at diagnosis and inappropriate treatment.


CONCLUSIONS
Although molecular diagnosis has been available in our center for the past 10 years, there is no doubt that awareness for early recognition of immunodeficiency should be improved through broader and more comprehensive education programs emphasizing characteristics of patients with immunodeficiencies.
Basile
Natalia
N
Servicio de Inmunología, Hospital de Pediatría Juan P Garrahan, Buenos Aires, Argentina.
Danielian
Silvia
S
Oleastro
Matias
M
Rosenzweig
Sergio
S
Prieto
Emma
E
Rossi
Jorge
J
Roy
Adriana
A
Zelazko
Marta
M
D000293:Adolescent; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000628:therapy; D001118:Argentina; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D042241:Early Diagnosis; D005260:Female; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D008171:Lung Diseases / Q000175:diagnosis / Q000209:etiology / Q000276:immunology; D008297:Male; D009154:Mutation / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D012141:Respiratory Tract Infections / Q000175:diagnosis / Q000209:etiology / Q000276:immunology; D012189:Retrospective Studies
D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase