Evidence map›Paper›PMID 25101082›Full record

ArticleFrontiers in immunology2014

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome.

Amy E O'Connell, Stefano Volpi, Kerry Dobbs, Claudia Fiorini, Erdyni Tsitsikov, Helen de Boer, Isil B Barlan, Jenny M Despotovic, Francisco J Espinosa-Rosales, I Celine Hanson and 9 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
3.9field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

39 citing papers in PubMed, 45 citations in OpenAlex.

  1. Trial
  2. VDJ-REMIX: REpertoire Module Identification and eXploration.Bioinformatics (Oxford, England) · 2026
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  14. NovelFrontiers in pediatrics · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 8 institutions in 6 countries.

Amy E O'ConnellDepartment of Immunology, Boston Children's Hospital , Boston, MA , USA.
Stefano VolpiDepartment of Immunology, Boston Children's Hospital , Boston, MA , USA.
Kerry DobbsDepartment of Immunology, Boston Children's Hospital , Boston, MA , USA.
Claudia FioriniDepartment of Hematology/Oncology, Boston Children's Hospital , Boston, MA , USA.
Erdyni TsitsikovDepartment of Laboratory Medicine, Boston Children's Hospital , Boston, MA , USA.
Helen de BoerDepartment of Hematology/Oncology, Boston Children's Hospital , Boston, MA , USA.
Isil B BarlanMarmara University Medical Center , Istanbul , Turkey.
Jenny M DespotovicTexas Children's Hospital , Houston, TX , USA.
Francisco J Espinosa-RosalesInstituto Nacional de Pediatría , Mexico City , Mexico.
I Celine HansonTexas Children's Hospital , Houston, TX , USA.
Maria G KanariouAghia Sophia Children's Hospital , Athens , Greece.
Roxana Martínez-BeckeratDepartment of Pediatric Hemato-Oncology, Hospital Mario Catarino Rivas , San Pedro Sula , Honduras.
Alvaro Mayorga-SireraCentro de Neumologia y Alergia , San Pedro Sula , Honduras.
Carmen Mejia-CarvajalManati Medical Center, Manati , Puerto Rico, PR , USA.
Nesrine RadwanAin Shams University , Cairo , Egypt.
Aaron R WeissMaine Medical Center , Portland, ME , USA.
Sung-Yun PaiDepartment of Hematology/Oncology, Boston Children's Hospital , Boston, MA , USA.
Yu Nee LeeDepartment of Immunology, Boston Children's Hospital , Boston, MA , USA.
Luigi D NotarangeloDepartment of Immunology, Boston Children's Hospital , Boston, MA , USA ; Manton Center for Orphan Disease Research, Boston Children's Hospital , Boston, MA , USA.
Boston Children's Hospital · USTexas Children's Hospital · USAin Shams University · EGChildren's Hospital Agia Sophia · GRHonduras Foundation for Agricultural Research · HNInstituto Nacional de Pediatria · MXMaine Medical Center · USMarmara University · TR

Funding

WIP in TCR signaling and actin reorganizationP01HL059561 · NHLBI · IMMUNE DISEASE INSTITUTE, INC. · PI GEHA, RAIF SALIM · 1997 to 2012
$21.8M
MOLECULAR BASIS OF ALLERGIC AND IMMUNOLOGIC DISEASET32AI007512 · NIAID · CHILDREN'S HOSPITAL BOSTON · PI Janet Chou, Peter A Nigrovic · 1996 to 2026
$13.1M
NHLBI NIH HHS P01 HL059561NIAID NIH HHS T32 AI007512
6 · The paper itself

Abstract

The Wiskott-Aldrich syndrome (WAS) is due to mutations of the WAS gene encoding for the cytoskeletal WAS protein, leading to abnormal downstream signaling from the T cell and B cell antigen receptors (TCR and BCR). We hypothesized that the impaired signaling through the TCR and BCR in WAS would subsequently lead to aberrations in the immune repertoire of WAS patients. Using next generation sequencing (NGS), the T cell receptor β and B cell immunoglobulin heavy chain (IGH) repertoires of eight patients with WAS and six controls were sequenced. Clonal expansions were identified within memory CD4(+) cells as well as in total, naïve and memory CD8(+) cells from WAS patients. In the B cell compartment, WAS patient IGH repertoires were also clonally expanded and showed skewed usage of IGHV and IGHJ genes, and increased usage of IGHG constant genes, compared with controls. To our knowledge, this is the first study that demonstrates significant abnormalities of the immune repertoire in WAS patients using NGS.

Indexed as

B cell receptorclonotypic expansiondeep sequencingimmune repertoirenext generation sequencingsomatic hypermutationT cell receptorWiskott–Aldrich syndrome

Identifiers

PMID25101082
PMCPMC4102881
OpenAlexW1997259543

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.