title: Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades.
abstract: OBJECTIVE
  The hallmark of Primary immunodeficiencies (PID) is unusual infection, although other immunological non-infectious manifestations such as autoimmunity, allergy and cancer are often present. Most published reports focus on one disease or defect groups, so that a global prevalence of non-infectious manifestations of PID is hard to find. We aimed to describe the clinical features of our pediatric patients with PID, as well as the frequency and evolution of allergy, cancer and autoimmunity.
  
  
  METHODS
  We reviewed all the available charts of patients being followed for PID from 1991 to the spring of 2012 at the National Institute of Pediatrics, Mexico City, to describe their demographic, clinical and laboratory features. Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves.
  
  
  RESULTS
  There were 168 charts available, from which we excluded one duplicate and six equivocal diagnoses. We studied the charts of 161 PID patients (68% male, 86% alive), mostly from the center of the country, with a positive family history in 27% and known consanguinity in 11%. Eighty percent of the patients were diagnosed during the last decade. Current median age was 124 months; median age at onset of infections, 12 months; median age at diagnosis, 52 months; median age at death, 67.5 months. Severe infection and bleeding were the cause of 22 deaths. Eighty-six percent of all patients had at least one infection, while non-infectious manifestations had a global prevalence of 36%, namely: autoimmunity 19%, allergies 17%, and cancer 2.4%. Survival curves were not significantly different when compared by decade of diagnosis.
  
  
  CONCLUSIONS
  Compared to other registry reports, we found a lower prevalence of antibody defects, and of associated allergy and cancer. We could only locate two isolated IgA deficiencies and four cases of cancer among our PID patients. Although antibody defects are the most prevalent group (30%), the distribution we found is similar to that reported in Iran, Kuwait, Egypt and Taiwan, with a close 27% share for phagocyte defects, and 26% for the formerly called "well-defined" syndromes. Of note, autoimmune and inflammatory complications are high among our patients with chronic granulomatous disease, as has been reported in both the United States and Japan, but not in Europe.
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico. dr.lugo.reyes@gmail.com.
authors.forename: Saul Oswaldo
authors.initials: SO
authors.lastname: Lugo Reyes
authors.affiliation: Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Ramirez-Vazquez
authors.affiliation: Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Alonso
authors.initials: A
authors.lastname: Cruz Hernández
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Edgar A
authors.initials: EA
authors.lastname: Medina-Torres
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Ana Belen
authors.initials: AB
authors.lastname: Ramirez-Lopez
authors.affiliation: Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Corín
authors.initials: C
authors.lastname: España-Cabrera
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Citlali A
authors.initials: CA
authors.lastname: Hernandez-Lopez
authors.affiliation: Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Yamazaki-Nakashimada
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.|Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Espinosa-Rosales
authors.affiliation: Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.
authors.forename: Sara E
authors.initials: SE
authors.lastname: Espinosa-Padilla
authors.affiliation: Research Methodology Department, National Institute of Pediatrics, Mexico City, Mexico. chiharumurata@gmail.com.
authors.forename: Chiharu
authors.initials: C
authors.lastname: Murata
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D006967:Hypersensitivity / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D007239:Infections / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D008297:Male; D008800:Mexico; D009369:Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D010641:Phenotype; D015995:Prevalence; D016019:Survival Analysis
keywords: Allergy; Autoimmunity; cancer; diagnostic delay; infection; inflammation; mexico; prevalence; primary immunodeficiencies; survival; treatment