Evidence map›Paper›PMID 35149963›Full record

ArticleJournal of clinical immunology2022

Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression.

Caroline Khanna, Carole Le Coz, Courtney Vaccaro, Piyush Pillarisetti, Ainsley V C Knox, Andrew Sy, Edward M Behrens, David Buchbinder, Neil Romberg

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Article in Journal of clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 98% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

9 authors at 2 institutions in 1 country.

Caroline KhannaDivision of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Carole Le CozDivision of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Courtney VaccaroCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Piyush PillarisettiDivision of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ainsley V C KnoxDivision of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Andrew SyDepartment of Hematology, The Children's Hospital of Orange County, Orange, CA, USA.
Edward M BehrensDivision of Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
David BuchbinderDepartment of Hematology, The Children's Hospital of Orange County, Orange, CA, USA.
Neil RombergDivision of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA, USA. rombergn@chop.edu.ORCID 0000-0002-1881-5318
Children's Hospital of Philadelphia · USChildren's Hospital of Orange County · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wiskott-Aldrich Syndrome Protein (WASP) deficiency causes Wiskott-Aldrich Syndrome (WAS), a sex-linked disorder characterized by combined immunodeficiency, microthrombocytopenia, and eczema. Like WASP-deficient humans, WASP-deficient mice produce normal numbers of functionally defective T cells. Here, we report a WAS patient with a novel germline frameshifting WAS mutation encoding a truncated form of WASP lacking the C-terminal cofilin homology (C) and the acidic region (A) domains (WASPΔCA). Although stably overexpressed in embryonic kidney cell lines, WASPΔCA was undetectable in circulating patient leukocytes. Deep sequencing, transcript profiling, and protein degradation analyses demonstrated patient lymphocytes employ an array of genetic, epigenetic, and proteasomal strategies to avoid expressing WASPΔCA.

Indexed as

Wiskott-Aldrich SyndromeWiskott-Aldrich Syndrome ProteinAnimalsEpigenesis, GeneticHumansLymphocytesMiceMutationProteasome Endopeptidase ComplexProteasome Endopeptidase ComplexWiskott-Aldrich Syndrome ProteinProteosomeWASWASPWiskott-Aldrich Syndrome

Identifiers

PMID35149963
OpenAlexW4211123467

What OpenQuestion holds

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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.