Evidence map›Paper›PMID 32681206›Full record

ArticleJournal of clinical immunology2020

Progressive B Cell Loss in Revertant X-SCID.

Connie H Lin, Hye Sun Kuehn, Timothy J Thauland, Christine M Lee, Suk See De Ravin, Harry L Malech, Timothy J Keyes, Astraea Jager, Kara L Davis, Maria I Garcia-Lloret and 2 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 41% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Pooled it
  2. A novel hypomorphic mutation inThe journal of allergy and clinical immunology. Global · 2025
    Article
  3. Article
  4. Article
  5. Review
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

12 authors at 4 institutions in 1 country.

Connie H LinDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Hye Sun KuehnImmunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.
Timothy J ThaulandDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Christine M LeeDepartment of Pathology, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Suk See De RavinLaboratory of Clinical Immunology and Microbiology, National Institutes of Health, NIAID, Bethesda, MD, USA.
Harry L MalechLaboratory of Clinical Immunology and Microbiology, National Institutes of Health, NIAID, Bethesda, MD, USA.
Timothy J KeyesDepartment of Pediatrics, Division of Stem Cell and Regenerative Medicine, Stanford University, Stanford, CA, 90435, USA.
Astraea JagerDepartment of Pediatrics, Division of Stem Cell and Regenerative Medicine, Stanford University, Stanford, CA, 90435, USA.
Kara L DavisDepartment of Pediatrics, Division of Stem Cell and Regenerative Medicine, Stanford University, Stanford, CA, 90435, USA.
Maria I Garcia-LloretDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.
Manish J ButteDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA. mbutte@mednet.ucla.edu.ORCID 0000-0002-4490-5595
University of California, Los Angeles · USStanford University · USNational Institutes of Health · USNational Institutes of Health Clinical Center · US

Funding

Studies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0M
Gene Therapy Basic Research to Treat Inherited Primary Immune DeficienciesZIAAI000644 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MALECH, HARRY L · 2009 to 2025
$12.1M
Development and Clinical Application of Gene and Cell therapies for Patients with Immune DeficienciesZIAAI000645 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DE RAVIN, SUK SEE · 2009 to 2025
$10.1M
Influences of nanomechanical forces on T cellsR01GM110482 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BUTTE, MANISH J · 2014 to 2018
$1.6M
Single-cell High-dimensional Characterization of the Bone Marrow Microenvironment in Health and DiseaseR21AG057224 · NIA · STANFORD UNIVERSITY · PI DAVIS, KARA LYNN, SPITZER, MATTHEW · 2017 to 2018
$449k
Mutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0k
Intramural NIH HHS ZIA AI000645Intramural NIH HHS ZIA CL010304NIA NIH HHS R21 AG057224NIGMS NIH HHS R01 GM110482
6 · The paper itself

Abstract

We report the case of a patient with X-linked severe combined immunodeficiency (X-SCID) who survived for over 20 years without hematopoietic stem cell transplantation (HSCT) because of a somatic reversion mutation. An important feature of this rare case included the strategy to validate the pathogenicity of a variant of the IL2RG gene when the T and B cell lineages comprised only revertant cells. We studied the X-inactivation of sorted T cells from the mother to show that the pathogenic variant was indeed the cause of his SCID. One interesting feature was a progressive loss of B cells over 20 years. CyTOF (cytometry time of flight) analysis of bone marrow offered a potential explanation of the B cell failure, with expansions of progenitor populations that suggest a developmental block. Another interesting feature was that the patient bore extensive granulomatous disease and skin cancers that contained T cells, despite severe T cell lymphopenia in the blood. Finally, the patient had a few hundred T cells on presentation but his TCRs comprised a very limited repertoire, supporting the important conclusion that repertoire size trumps numbers of T cells.

Indexed as

Disease SusceptibilityBiomarkersBiopsyB-LymphocytesChild, PreschoolCytokinesExome SequencingGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansImmunophenotypingInfantLymphocyte CountMalePhenotypeSkinBiomarkersCytokinesB cellsIL2RGSCIDsomatic reversionT cells

Identifiers

PMID32681206
PMCPMC7508923
OpenAlexW3043344196

What OpenQuestion holds

Textmetadata
LicenceTDM
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.