Bandar Al-Saud1,2, Hamoud Al-Mousa3,4, Sulaiman Al Gazlan5, Abdulaziz Al-Ghonaium3, Rand Arnaout3,4, Amal Al-Seraihy6, Sahar Elshorbagi3, Nazeema Elsayed7, Jawad Afzal8, Hasan Al-Dhekri3, Saleh Al-Muhsen3,9. 1. 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. 2. Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia. banderkh@hotmail.com. 3. 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. 4. Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia. 5. Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 6. Department of Pediatric Hematology and Oncology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 7. Ambulatory Care Nursing, Nursing Affairs, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 8. Biostatistics, Epidemiology, and Scientific Computing Department, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 9. Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Abstract
PURPOSE: 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). CONCLUSION: 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.
PURPOSE: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). CONCLUSION: 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: Beatriz E Marciano; Chiung-Yu Huang; Gyan Joshi; Nima Rezaei; Beatriz Costa Carvalho; Zoe Allwood; Aydan Ikinciogullari; Shereen M Reda; Andrew Gennery; Vojtech Thon; Francisco Espinosa-Rosales; Waleed Al-Herz; Oscar Porras; Anna Shcherbina; Anna Szaflarska; Şebnem Kiliç; Jose L Franco; Andrea C Gómez Raccio; Persio Roxo; Isabel Esteves; Nermeen Galal; Anete Sevciovic Grumach; Salem Al-Tamemi; Alisan Yildiran; Julio C Orellana; Masafumi Yamada; Tomohiro Morio; Diana Liberatore; Yoshitoshi Ohtsuka; Yu-Lung Lau; Ryuta Nishikomori; Carlos Torres-Lozano; Juliana T L Mazzucchelli; Maria M S Vilela; Fabiola S Tavares; Luciana Cunha; Jorge A Pinto; Sara E Espinosa-Padilla; Leticia Hernandez-Nieto; Reem A Elfeky; Tadashi Ariga; Heike Toshio; Figen Dogu; Funda Cipe; Renata Formankova; M Enriqueta Nuñez-Nuñez; Liliana Bezrodnik; Jose Gonçalo Marques; María I Pereira; Viviana Listello; Mary A Slatter; Zohreh Nademi; Danuta Kowalczyk; Thomas A Fleisher; Graham Davies; Bénédicte Neven; Sergio D Rosenzweig Journal: J Allergy Clin Immunol Date: 2014-04 Impact factor: 10.793
Authors: A Ikincioğullari; F Doğu; E Ciftci; E Unal; M Ertem; I Reisli; S Adiyaman; S T Yildiran; S Erekul; E Babacan Journal: Bone Marrow Transplant Date: 2002-07 Impact factor: 5.483