Evidence map›Paper›PMID 31652152›Full record

ArticleCurrent opinion in hematology2020

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.

David C Dale, Emily Dick, Merideth Kelley, Vahagn Makaryan, Jim Connelly, Audrey Anna Bolyard

Open access · greenAbstract read
In one paragraph

Article in Current opinion in hematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 43% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Trial
  4. Cutaneous manifestations of WHIM syndrome.The Journal of dermatology · 2025
    Article
  5. Review
  6. CREB1-driven CXCR4Nature communications · 2023
    Article
  7. Article
  8. Observational
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

6 authors at 2 institutions in 1 country.

David C DaleDepartment of Medicine, University of Washington.
Emily DickUniversity of Washington, Severe Chronic Neutropenia International Registry, Seattle, Washington.
Merideth KelleyDepartment of Medicine, University of Washington.
Vahagn MakaryanDepartment of Medicine, University of Washington.
Jim ConnellyDepartment of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA.
Audrey Anna BolyardUniversity of Washington, Severe Chronic Neutropenia International Registry, Seattle, Washington.
University of Washington · USVanderbilt University · US

Funding

Severe Chronic Neutropenia International RegistryR24AI049393 · NIAID · UNIVERSITY OF WASHINGTON · PI DALE, DAVID CHANDLER · 2004 to 2019
$10.6M
NIAID NIH HHS R24 AI049393
6 · The paper itself

Abstract

purpose of reviewWHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare autosomal dominant immunodeficiency disorder attributable to mutations in CXCR4. We reviewed clinical manifestations in 24 patients in 9 families to expand understanding of this syndrome. RECENT

findingsWarts, cellulitis and respiratory infections are common in patients with WHIMs. Less commonly these patients have congenital heart disease, human papilloma virus-associated malignancies (cervical and vulvular) and lymphomas. Hearing loss because of recurrent otitis media is another important complication. Treatment with granulocyte colony-stimulating factor is controversial; this review indicates that it is effective to prevent and treat infections based upon long-term observations of patients enrolled in the Severe Chronic Neutropenia International Registry. Understanding the natural history and diversity of this syndrome are important for ongoing clinical trials of novel agents to treat WHIMs. SUMMARY: WHIM syndrome has diverse manifestations; some features occur consistently in almost all patients, for example, neutropenia, lymphocytopenia and mild hypogammaglobulinemia. However, the clinical consequences are quite variable across patient cohorts and within families. Each complication is important as a cause for morbidity and a source for patient and family concerns.

Indexed as

AgammaglobulinemiaFamilyMutationPrimary Immunodeficiency DiseasesRegistriesWartsFemaleHumansMaleReceptors, CXCR4Risk FactorsCXCR4 protein, humanReceptors, CXCR4

Identifiers

PMID31652152
PMCPMC7241424
OpenAlexW2981503243

What OpenQuestion holds

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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.