지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제17권 제4호
- 발행연도
- 2014.1
- 수록면
- 257 - 262 (6page)
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초록· 키워드
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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 prog-nosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meco-nium 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.
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참고문헌 (9)
참고문헌 신청
Agarwal NS / 2014 / Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency / J Clin Immunol 34 : 607
Ali YA / 2011 / Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA,
Avitzur Y / 2014 / Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease / Gastroenterology 146 : 1028 ~ 1039
Chen R / 2013 / Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias / J Allergy Clin
Fischer RT / 2014 / Intestinal transplantation in children with multiple intestinal atresias and immunodeficiency / Pediatr Transplant 18 : 190 ~ 196
Ali YA / 2011 / Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA,
Avitzur Y / 2014 / Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease / Gastroenterology 146 : 1028 ~ 1039
Chen R / 2013 / Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias / J Allergy Clin
Fischer RT / 2014 / Intestinal transplantation in children with multiple intestinal atresias and immunodeficiency / Pediatr Transplant 18 : 190 ~ 196
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