title: The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.
abstract: Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Guanà
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Garofano
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Teruzzi
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Vinardi
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Carbonaro
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Cerrina
authors.affiliation: Division of Pathology, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Morra
authors.affiliation: Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Montin
authors.affiliation: Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mussa
authors.affiliation: Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Schleef
keywords: Intestinal resection; Multiple intestinal atresias; Severe combined immunodeficiency