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Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency

Overview of attention for article published in Frontiers in immunology, January 2017
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Title
Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency
Published in
Frontiers in immunology, January 2017
DOI 10.3389/fimmu.2017.00052
Pubmed ID
Authors

Shahrzad Bakhtiar, Laura Gámez-Díaz, Andrea Jarisch, Jan Soerensen, Bodo Grimbacher, Bernd Belohradsky, Klaus-Michael Keller, Christoph Rietschel, Thomas Klingebiel, Sibylle Koletzko, Michael H. Albert, Peter Bader

Abstract

Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primary immunodeficiency syndromes. Poor clinical outcome is associated with poor quality of life and high morbidity from the complications of prolonged immunosuppressive treatment and malabsorption. In 2012, mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) gene were identified as the cause of an autoimmunity and immunodeficiency syndrome. Since then, several LRBA-deficient patients have been reported with a broad spectrum of clinical manifestations without reliable predictive prognostic markers. Allogeneic hematopoietic stem cell transplantation (alloHSCT) has been performed in a few severely affected patients with complete or partial response. Herein, we present a detailed course of the disease and the transplantation procedure used in a LRBA-deficient patient suffering primarily from infantile IBD with immune enteropathy since the age of 6 weeks, and progressive autoimmunity with major complications following long-term immunosuppressive treatment. At 12 years of age, alloHSCT using bone marrow of a fully matched sibling donor-a healthy heterozygous LRBA mutant carrier-was performed after conditioning with a reduced-intensity regimen. During the 6-year follow-up, we observed a complete remission of enteropathy, autoimmunity, and skin vitiligo, with complete donor chimerism. The genetic diagnosis of LRBA deficiency was made post-alloHSCT by detection of two compound heterozygous mutations, using targeted sequencing of DNA samples extracted from peripheral blood before the transplantation.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 40 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 11 28%
Student > Bachelor 5 13%
Researcher 5 13%
Student > Doctoral Student 4 10%
Other 3 8%
Other 7 18%
Unknown 5 13%
Readers by discipline Count As %
Medicine and Dentistry 14 35%
Biochemistry, Genetics and Molecular Biology 5 13%
Immunology and Microbiology 5 13%
Nursing and Health Professions 2 5%
Pharmacology, Toxicology and Pharmaceutical Science 2 5%
Other 6 15%
Unknown 6 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 February 2017.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from Frontiers in immunology
#22,585
of 31,531 outputs
Outputs of similar age
#306,443
of 424,113 outputs
Outputs of similar age from Frontiers in immunology
#296
of 385 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 31,531 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.4. This one is in the 21st percentile – i.e., 21% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 424,113 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 24th percentile – i.e., 24% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 385 others from the same source and published within six weeks on either side of this one. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.