title: Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010-2013).
abstract: OBJECTIVE
  Primary immunodeficiencies (PID) are a group of heterogeneous diseases. Epidemiological studies from databases worldwide show geographical variation. In this study the objective is to determine the spectrum of PID in Saudi Arabia by analyzing the database in a referral tertiary hospital.
  
  
  METHODS
  This is a prospective data collection by interviews and medical chart review for all PID patients followed at the King Faisal Specialist Hospital & Research Center (KFSH&RC) from May 2010 to April 2013.
  
  
  RESULTS
  A total of 502 patients presented (53 % male and 47 % female). Combined immunodeficiencies were the most common (59.7 %), followed by predominantly antibody deficiencies (12.3 %), congenital defects of phagocyte (9.4 %), combined immunodeficiencies with associated or syndromic features (6.2 %), disease of immune dysregulation (6 %), complement deficiencies (5.8), and defects in innate immunity (0.6 %). The most common combined immunodeficiencies phenotype was T-B-SCID (17 %). The patients' ages ranged from less than 1 year old to 78 years, and 394 patients (78.2 %) are in the paediatrics age group (<14 years). The overall mean age of symptoms onset was 17 months and the overall mean delay in diagnosis was 21.6 months. Recurrent infections were the most common occurring clinical presentation (66 %), followed by family history (26 %). Consanguinity was found in 75 % of the patients. A total of 308 (61 %) patients had undergone stem cell transplantation (SCT).
  
  
  CONCLUSIONS
  The study revealed that combined immunodeficiencies are not uncommon and are the most frequent occurring diagnosis in our patient population. This study is a prerequisite to establish a national registry of primary immunodeficiency in Saudi Arabia.
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia. banderkh@hotmail.com.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia. banderkh@hotmail.com.
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.affiliation: Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Sulaiman
authors.initials: S
authors.lastname: Al Gazlan
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.affiliation: Department of Pediatric Hematology and Oncology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Seraihy
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Sahar
authors.initials: S
authors.lastname: Elshorbagi
authors.affiliation: Ambulatory Care Nursing, Nursing Affairs, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Nazeema
authors.initials: N
authors.lastname: Elsayed
authors.affiliation: Biostatistics, Epidemiology, and Scientific Computing Department, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Jawad
authors.initials: J
authors.lastname: Afzal
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC-58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.|Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D007223:Infant; D007239:Infections / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012008:Recurrence; D012529:Saudi Arabia; D033581:Stem Cell Transplantation; D013601:T-Lymphocytes / Q000502:physiology*; D062606:Tertiary Care Centers; D055815:Young Adult
keywords: Primary immunodeficiencies disorders; epidemiology; infections; severe combined immunodeficiency (SCID); stem cell transplantation