The Spectrum of Primary Immunodeficiency Diseases in A Saudi Tertiary Care Hospital Over Two Years

Primary immunodeficiencies (PID) are a group of heterogeneous diseases with more then 200 type described. Databases worldwide show geographical variation. Data captured form interviews and a retrospective chart review for all PID patients managed at King Faisal Specialist Hospital & Research Center (KFSHRC) from May 2010 to April 2012(ongoing). A software was designed for data entry. Microsoft SQL Server was used to develop and administer the database. 357 cases encountered (54% male and 46% female).age range: <1 to 45 years. Consanguinity in 76 %. 205 patients of combined B & T-cell defect (T- B+ SCID 9, T-B-SCID 51, ADA 7, PNP 3, Reticular dysgenesis 3, Omenn Syndrome 12, CID 7, SCID NOS 37, Hyper IgM syndrome 18, MHC II deficiency 42, Hyper IgE Syndrome 16). Predominantly antibody defect in 55 patients (CVID 26, Agammaglobulinemia 10, and Hypogammaglobulinemia 19). 21 patients in other well defined PID (Wiskott Aldrich syndrome 12, DiGeorge Syndrome 3, Ataxia Telangeictasia 4, ICF 1, Dyskeratosis congenital 1). 23 with Immune Dysregulation (Chediak Higashi 7, Griscelli Syndrome 15, EBV related LPS 1). 37 patients had phagocytic defect (Chronic Granulomatous Disease 26, leukocyte adhesion deficiency 11). 16 patients with complement deficiencies (HAE 14, C5 deficiency 2). 178 patients underwent hematopoietic stem cell transplantation (HSCT) (143allogenic & 35cord). 10 patients died (5 SCID, 1 CID, 2 MHCII deficiency,1 Griscelli syndrome and 1 Dyskeratosis congenital). The high incidence and the pattern of PIDs with higher percentage of combined B & T-cell defects could be due to the genetic backgrounds and the higher consanguinity in the Saudi population.