Application of aCGH Analysis in Patients with Primary Immunodeficiency of Unknown Genetic Origin – Identification of Atypical SAP Deficiency and Coronin-1a Deficiency

Tania N Masmas^1*, Marianne Ifversen¹, Jakob Ek², Lone Schejbel³, Hanne V Marquart³, Klaus Müller¹, Carsten Heilmann¹, Susanne Kjaergaard² and Maria Kirchhoff²

¹Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark

²Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark

³Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark

^*Corresponding Author: Tania N Masmas, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark, Tel: 0045 4158 5010 Email: