title: Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience.
abstract: Primary immunodeficiency disorders (PIDs) are heterogeneous disorders that mainly present with severe, persistent, unusual, or recurrent infections in childhood. Reports from different parts of the world indicate a difference between Western and Eastern populations.
  
  
  
  The aim of this study was to report on the different patterns of PIDs and identify subgroup characteristics in a highly consanguineous population in Egypt.
  
  
  
  We performed a retrospective chart review for children below 18 years diagnosed with PID at Cairo University Pediatric Hospital from 2010 to 2014.
  
  
  
  Four hundred seventy-six children were diagnosed with PID disorders. Major categories included combined immunodeficiency disorders, which constituted a large proportion (30 %) of cases, along with predominantly antibody disorders (18 %) followed by syndromic combined disorders (16.8 %), phagocytic disorders (13.2 %), immune dysregulation disorders (10.5 %), and autoinflammatory disorders (9 %).
  
  
  
  PIDs have different patterns within inbred populations with high consanguinity.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. Nermeen.galal@kasralainy.edu.eg.
authors.forename: Nermeen
authors.initials: N
authors.lastname: Galal
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Safa
authors.initials: S
authors.lastname: Meshaal
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Rabab
authors.initials: R
authors.lastname: Elhawary
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Dalia Abd
authors.initials: DA
authors.lastname: ElAziz
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Radwa
authors.initials: R
authors.lastname: Alkady
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Sohilla
authors.initials: S
authors.lastname: Lotfy
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Alia
authors.initials: A
authors.lastname: Eldash
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Jeanette
authors.initials: J
authors.lastname: Boutros
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Aisha
authors.initials: A
authors.lastname: Elmarsafy
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D057210:Delayed Diagnosis; D004534:Egypt / Q000453:epidemiology; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006785:Hospitals, University; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008403:Mass Screening; D010641:Phenotype; D011159:Population Surveillance; D012042:Registries; D012189:Retrospective Studies
keywords: Primary immunodeficiency disorders; children; consanguineous populations; patterns