Mortality and morbidity in patients with X-linked agammaglobulinaemia.
BACKGROUND
X-linked agammaglobulinaemia (XLA) is a genetic disorder characterised by a defect in the generation of mature B cells, lack of antibodies production, and susceptibility to recurrent bacterial infections. Understanding of the risk factors responsible for morbidity and mortality in these patients can help in a better management of this disorder. However, there is a lack of specific studies in the literature regarding the morbidity and mortality of XLA patients. This study is designed to evaluate morbidities and mortality and survival rates in Iranian patients with XLA diagnosis during the past 20 years.


METHODS
We have registered the clinical data of the XLA patients and followed them up until 2010. At the time of diagnosis, a four-page questionnaire including complete medical information was filled out for all patients. Follow-up information was gathered either by reviewing the patients' hospital records or regularly visiting the patients.


RESULTS
Among 41 patients, 26.8% died during the follow up period. All of the complications before the initiation of treatment such as pneumonia, otitis media and diarrhoea were reduced after immunoglobulin replacement, except sinusitis and conjunctivitis. There were significant associations between some immunological and clinical characteristics such as lymphocyte subsets, consanguinity marriage and mortality.


CONCLUSIONS
Despite recent advances in the treatment of XLA, these patients still suffer from severe complications. Associations between poor prognosis and clinical and some immunological characteristics of the patients may help physicians to select poor prognoses patients at higher risk of mortality to develop prevention strategies for them.
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at the Karolinska University Hospital Huddinge, Stockholm, Sweden.
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Abolhassani
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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A
Hirbod-Mobarakeh
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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Shahinpour
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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Panahi
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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Mohammadinejad
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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B
Mirminachi
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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MS
Shakari
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
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B
Samavat
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: aghamohammadi@tums.ac.ir.
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Aghamohammadi
D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D002648:Child; D015897:Comorbidity; D003241:Consanguinity; D003967:Diarrhea / Q000453:epidemiology*; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007492:Iran; D016131:Lymphocyte Subsets / Q000276:immunology; D008297:Male; D010033:Otitis Media / Q000453:epidemiology*; D011014:Pneumonia / Q000453:epidemiology*; D011795:Surveys and Questionnaires; D016019:Survival Analysis; D055815:Young Adult
D016756:Immunoglobulins, Intravenous
Infections; Prognosis of disease; Survival rate; X-linked agammaglobulinaemia