Title of article :
Severe Combined Immunodeficiency Disorder due to a NovelMutation in Recombination Activation Gene 2: About 2 Cases
Author/Authors :
Benhsaien, Ibtihal Clinical Immunology Unit - Infectious Disease Department - Children Hospital - IBN Rochd University Hospital - Casablanca, Morocco , Ailal, Fatima Clinical Immunology Unit - Infectious Disease Department - Children Hospital - IBN Rochd University Hospital - Casablanca, Morocco , Bousfiha, Ahmed Aziz Clinical Immunology Unit - Infectious Disease Department - Children Hospital - IBN Rochd University Hospital - Casablanca, Morocco , Elazhary, Khadija Cellular and Molecular Pathology Laboratory - Faculty of Medicine and Pharmacy of Casablanca - Hassan II University - Casablanca, Morocco , Badou, Abdallah Cellular and Molecular Pathology Laboratory - Faculty of Medicine and Pharmacy of Casablanca - Hassan II University - Casablanca, Morocco , bakkouri, Jalila El ClinicalImmunology - AutoimmunityandInflammationLaboratory(LICIA) - FacultyofMedicineandPharmacyofCasablanca - Hassan II University - Casablanca, Morocco
Abstract :
Severecombinedimmunodeficiency(SCID)comprisesaheterogeneousgroupofinheritedimmunologicdisorderswithprofounddefects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected childrenarehighlysusceptibletobacterial,viral,fungal,andopportunisticinfectionswithlife-threateningintheabsenceofhematopoieticstem cell transplantation. We report here two cases of SCID. 'e first case is a girl diagnosed with SCID at birth based on herfamily history and lymphocyte subpopulation typing. 'e second case is a 4-month-old boy with a history of recurrent op-portunistic infections,BCGitis,andfailuretothrive,andthe immunologyworkupconfirms aSCIDphenotype.'egeneticstudyin the two cases revealed a novel mutation in the RAG2 gene, c.826G>A (p.Gly276Ser), in a homozygous state. 'e novelmutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.
Keywords :
Severe Combined Immunodeficiency Disorder due , Novel Mutation , Recombination Activation Gene 2 , Severe combined immunodeficiencies (SCIDs) , T-B-NK+SCID
Journal title :
Case Reports in Immunology
