Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

被引：25

作者：

Bolton, Chrissy ^{[1
]}

Burch, Nicola ^{[2
]}

Morgan, James ^{[2
]}

Harrison, Beth ^{[2
]}

Pandey, Sumeet ^{[1
]}

Pagnamenta, Alistair T. ^{[3
,4
]}

Taylor, Jenny C. ^{[3
,4
]}

Taylor, John M. ^{[4
,5
]}

Marsh, Judith C. W. ^{[6
]}

Potter, Victoria ^{[6
]}

Travis, Simon ^{[1
,4
]}

Uhlig, Holm H. ^{[1
,4
,7
]}

机构：

[1] Univ Oxford, John Radcliffe Hosp, Translat Gastroenterol Unit, NIHR Oxford Biomed Res Ctr,Nuffield Dept Expt Med, Oxford, England

[2] Univ Hosp Coventry & Warwickshire NHS Trust, Coventry, W Midlands, England

[3] Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

[4] Oxford NIHR Biomed Res Ctr, Oxford, England

[5] Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England

[6] Kings Coll London, Dept Haematol Med, Kings Coll Hosp, London, England

[7] Univ Oxford, John Radcliffe Hosp, Dept Paediat, Oxford, England

来源：

JOURNAL OF CROHNS & COLITIS | 2020年 / 14卷 / 01期

基金：

英国惠康基金;

关键词：

Exome sequencing; inflammatory bowel disease; genomics; immunodeficiency; CONGENITAL NEUTROPENIA; MUTATIONS; BLOOD;

D O I：

10.1093/ecco-jcc/jjz112

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn's disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3-associated immunodeficiency and the Crohn's disease phenotype. It illustrates how even in adulthood, next-generation sequencing can have a significant impact on clinical practice and healthcare utilization in patients with immunodeficiency and monogenic IBD.

引用

页码：142 / 147

页数：6

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