Evidence map›Paper›PMID 29177911›Full record

ArticleJournal of clinical immunology2018

Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis.

Qian Liu, Zhanzhuo Li, Alexander Y Yang, Ji-Liang Gao, Daniel S Velez, Elena J Cho, David H McDermott, Philip M Murphy

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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. Article
  2. Article
  3. Review
  4. Adaptive Immunodeficiency in WHIM Syndrome.International journal of molecular sciences · 2018
    Review
  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

8 authors.

Qian LiuLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Zhanzhuo LiLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Alexander Y YangLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Ji-Liang GaoLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Daniel S VelezLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Elena J ChoLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
David H McDermottLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA.
Philip M MurphyLaboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, Room 11N113, NIH, Bethesda, MD, 20892, USA. pmm@nih.gov.

Funding

Molecular Analysis Of Leukocyte Activation By ChemoattractantsZIAAI000615 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MURPHY, PHILIP · 2009 to 2025
$44.8M
MOLECULAR ANALYSIS OF NEUTROPHIL ACTIVATION BY CHEMOATTRACTANTSZ01AI000615 · NIAID · NIAID EXTRAMURAL ACTIVITIES · PI MURPHY, PHILIP · 1991 to 2008
$7.1M
Division of Intramural Research, National Institute of Allergy and Infectious Diseases AI000615-23Intramural NIH HHS Z01 AI000615NULL Z01 AI000615-18
6 · The paper itself

Abstract

WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. Originally diagnosed incorrectly with autoimmune neutropenia, the patient underwent splenectomy at age 9, but the absolute neutrophil count (ANC) did not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4

Indexed as

ChromothripsisAllelesAnimalsCell DifferentiationChildDisease Models, AnimalFemaleHaploinsufficiencyHematopoietic Stem CellsHumansImmunologic Deficiency SyndromesMiceMice, Inbred C57BLMice, KnockoutMutationNeutrophilsReceptors, CXCR4chromothripsisCXCR4HSCmutationNeutrophiliaWHIM syndrome

Identifiers

PMID29177911
PMCPMC5743603

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.