title: Distribution of primary immunodeficiency disorders diagnosed in a tertiary referral center,Tehran, Iran (2006-2013).
abstract: BACKGROUND
  Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy.
  
  
  OBJECTIVE
  To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital.
  
  
  METHODS
  All PID cases with a confirmed diagnosis, according to the criteria of International Union of Immunological Societies, who were referred to the Children's Medical Center in Tehran, Iran, between March 2006 and March 2013 were enrolled in this retrospective cohort study.
  
  
  RESULTS
  Three-hundred and seven PID patients were investigated. Predominantly antibody deficiencies were the most common group of PID observed in 118 cases (38.4%), followed by the well-defined syndromes with immunodeficiency in 52 (16.9%), congenital defects of phagocyte in 45 (14.7%), combined immunodeficiencies in 36 (11.7%), autoinflammatory disorders in 34 (11.4%), immune dysregulation in 11 (3.6%), complement deficiencies in 7 (2.3%), and defects in innate immunity in 3 (1%). Selective IgA deficiency was the most prevalent disorder which affected 46 individuals (14.9%). The median diagnostic delay was 15 months.
  
  
  CONCLUSIONS
  Increased awareness and availability of diagnostic tests could result in the better recognition of more undiagnosed PID cases and a decrease in diagnostic delay.
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Payam
authors.initials: P
authors.lastname: Mohammadinejad
authors.forename: Babak
authors.initials: B
authors.lastname: Mirminachi
authors.forename: Bamdad
authors.initials: B
authors.lastname: Sadeghi
authors.forename: Masoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Javad
authors.initials: J
authors.lastname: Mohammadi
authors.forename: Hassan
authors.initials: H
authors.lastname: Abolhassani
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
mesh_terms: D000293:Adolescent; D000328:Adult; D015551:Autoimmunity; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003165:Complement System Proteins / Q000172:deficiency; D057210:Delayed Diagnosis; D005260:Female; D006801:Humans; D007113:Immunity, Innate; D007070:Immunoglobulin A / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000276:immunology*; D007223:Infant; D007492:Iran; D008297:Male; D008875:Middle Aged; D010587:Phagocytosis; D012189:Retrospective Studies; D062606:Tertiary Care Centers; D055815:Young Adult
chemical_list: D007070:Immunoglobulin A; D003165:Complement System Proteins