title: Primary immunodeficiency in children: report of seven years study.
abstract: BACKGROUND
  Primary immunodeficiency diseases (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins, natural killer cells, T and B lymphocytes. These disorders are rare, with an estimated prevalence of 1:10,000 live births.
  
  
  OBJECTIVE
  This study aimed at describing the clinical features, disease complications, treatment modalities and overall outcome of patients with Primary Immunodeficiency Diseases (PID) in Masih Daneshvari hospital during a 7-year period (2001-2008).
  
  
  METHODS
  This was a retrospective study based on the review of patients' medical records. Clinical, laboratory, and epidemiological data including personal and family history were obtained by reviewing records of patients admitted to the Pediatric Pulmonary Ward of NRITLD, a referral center for tuberculosis and lung diseases. The diagnosis was made based on WHO criteria for primary immunodeficiency disorders.
  
  
  RESULTS
  Data collected from 59 patients were evaluated and analyzed. There were 35 (59.3%) males and 24 (40.69%) females. The age of patients ranged from 6 months to 14.5 years and the mean age was 7.4 years. Positive family history was detected in 20 (33.9%) cases and parents of 36 patients (61.2%) were consanguineous. Twenty patients (33.9%) had a family history of PID. Phagocytic disorder (57.2%) was the most common form of PID, followed by antibody deficiency (33.7%) and T-cell or combined deficiency (8.2%). No case of complement deficiency was detected. In this group of under study patients, 2 cases expired as the result of respiratory failure due to drug resistant pneumonia (chronic granulomatous disease cases).
  
  
  CONCLUSIONS
  Based on studied results, Phagocytic disorders (57.2%) were the most common disorders among our PID patients. This may be due to the large number of CGD patients referred with the pathologic finding of granuloma misdiagnosed with tuberculosis. Considering the high prevalence of PID in this study, cases with unusual, chronic, severe or recurrent infections should be evaluated for immunodeficiency disorders.
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Soheila
authors.initials: S
authors.lastname: Khalilzadeh
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Boloorsaz
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Nooshin
authors.initials: N
authors.lastname: Baghaie
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Sajedeh Mir Mohammad
authors.initials: SM
authors.lastname: Sadeghi
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Hassanzad
authors.affiliation: Pediatric Respiratory Disease Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran-Iran.
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Velayati
keywords: Cellular immunity; Children; Humoral immunity; Phagocytic disorders; Primary immunodeficiency disorders