Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
권호 표지
DOI QR코드

DOI QR Code

The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

  • Guana, Riccardo (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Garofano, Salvatore (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Teruzzi, Elisabetta (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Vinardi, Simona (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Carbonaro, Giulia (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Cerrina, Alessia (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital) ;
  • Morra, Isabella (Division of Pathology, University of Torino, Regina Margherita Children's Hospital) ;
  • Montin, Davide (Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital) ;
  • Mussa, Alessandro (Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital) ;
  • Schleef, Jurgen (Division of Pediatric General Surgery, University of Torino, Regina Margherita Children's Hospital)
  • Received : 2014.07.25
  • Accepted : 2014.10.03
  • Published : 2014.12.30
Download PDF
⟨ Previous Next ⟩

Abstract

Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal 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 ($c.313{\Delta}TATC$; 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.

Keywords

References

  1. Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 2013;50:324-9. https://doi.org/10.1136/jmedgenet-2012-101483
  2. Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 2014;146:1028-39. https://doi.org/10.1053/j.gastro.2014.01.015
  3. Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 2013;132:656-64. https://doi.org/10.1016/j.jaci.2013.06.013
  4. Fischer RT, Friend B, Talmon GA, Grant WJ, Quiros-Tejeira RE, Langnas AN, et al. Intestinal transplantation in children with multiple intestinal atresias and immunodeficiency. Pediatr Transplant 2014;18:190-6. https://doi.org/10.1111/petr.12211
  5. Ali YA, Rahman S, Bhat V, Al Thani S, Ismail A, Bassiouny I. Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years. BMJ Case Rep 2011;2011. doi: 10.1136/bcr.05.2010.3031.
  6. Moore SW, de Jongh G, Bouic P, Brown RA, Kirsten G. Immune deficiency in familial duodenal atresia. J Pediatr Surg 1996;31:1733-5. https://doi.org/10.1016/S0022-3468(96)90066-4
  7. Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, et al. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 1990;37:143-6. https://doi.org/10.1002/ajmg.1320370133
  8. Gilroy RK, Coccia PF, Talmadge JE, Hatcher LI, Pirruccello SJ, Shaw BW Jr, et al. Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency. Blood 2004;103:1171-4.
  9. Agarwal NS, Northrop L, Anyane-Yeboa K, Aggarwal VS, Nagy PL, Demirdag YY. Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. J Clin Immunol 2014;34:607-10. https://doi.org/10.1007/s10875-014-0067-7

Cited by

  1. Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017 vol.9, pp.None, 2018, https://doi.org/10.3389/fimmu.2018.01423
  2. Congenital intestinal atresias with multiple episodes of sepsis : A case report and review of literature vol.97, pp.23, 2018, https://doi.org/10.1097/md.0000000000010939
  3. TTC7A: Steward of Intestinal Health vol.7, pp.3, 2019, https://doi.org/10.1016/j.jcmgh.2018.12.001
  4. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease vol.10, pp.1, 2014, https://doi.org/10.1038/s41598-020-73482-6