Evidence map›Paper›PMID 25619630›Full record

ReviewCancer medicine2015

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.

Muhammad A Mir, Samith T Kochuparambil, Roshini S Abraham, Vilmarie Rodriguez, Matthew Howard, Amy P Hsu, Amie E Jackson, Steven M Holland, Mrinal M Patnaik

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in Cancer medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
2.4field-weighted citation impact, top 11% 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

25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 48 citations in OpenAlex.

  1. Pooled it
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  3. 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
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  7. Insights into PediatricBiomedicines · 2025
    Review
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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

9 authors at 3 institutions in 1 country.

Muhammad A MirPenn State Milton S. Hershey Cancer Institute, Hershey, Pennsylvania.
Samith T Kochuparambil
Roshini S Abraham
Vilmarie Rodriguez
Matthew Howard
Amy P Hsu
Amie E Jackson
Steven M Holland
Mrinal M Patnaik
Mayo Clinic · USNational Institutes of Health Clinical Center · USPenn State Milton S. Hershey Medical Center · US

Funding

Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6M
Transgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2M
6 · The paper itself

Abstract

Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.

Indexed as

AdultChildFemaleGATA2 Transcription FactorGenetic CounselingGerm-Line MutationHematologic NeoplasmsHematopoietic Stem Cell TransplantationHumansImmunologic Deficiency SyndromesMaleGATA2 protein, humanGATA2 Transcription FactorGATA2leukemialymphedemaMonoMACviral warts

Identifiers

PMID25619630
PMCPMC4402062
OpenAlexW2076666600

What OpenQuestion holds

Textmetadata
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.