Journal of Clinical and Cellular Immunology
Open Access
ISSN: 2155-9899
ISSN: 2155-9899
Maria Kirchhoff
Denmark
Research Article
Application of aCGH Analysis in Patients with Primary Immunodeficiency of Unknown Genetic Origin – Identification of Atypical SAP Deficiency and Coronin-1a Deficiency
Author(s): Tania N Masmas, Marianne Ifversen, Jakob Ek, Lone Schejbel, Hanne V Marquart, Klaus Müller, Carsten Heilmann, Susanne Kjaergaard and Maria KirchhoffTania N Masmas, Marianne Ifversen, Jakob Ek, Lone Schejbel, Hanne V Marquart, Klaus Müller, Carsten Heilmann, Susanne Kjaergaard and Maria Kirchhoff
Objective: Patients with primary immunodeficiencies (PID) verified by clinical disease and standard immunological diagnostics but without a genetic diagnosis remain a challenge. Genetic diagnosis is important in order to plan follow-up and treatment possibilities including bone marrow transplantation and genetic counselling. Methods: We used array comparative genomic hybridization (aCGH) analysis to investigate a cohort of pediatric patients with PID of unknown genetic origin in order to investigate the diagnostic yield of applying this technique to such patients and in an attempt to identify new possible genetic explanations for immunodeficiencies. Results: Chromosomal imbalances were found in four of 14 investigated patients. In two cases a genetic diagnosis was established involving the SH2 domain-containing protein 1A .. View More»
DOI:
10.4172/2155-9899.1000201