Evidence map›Paper›PMID 38320737›Full record

ArticleClinical immunology (Orlando, Fla.)2024

IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.

Natchanun Klangkalya, Jennifer Stoddard, Julie Niemela, Jennifer Sponaugle, Irl Brian Greenwell, Erin Reigh, Hye Sun Kuehn, Jennifer A Kanakry, Sergio D Rosenzweig, Dimana Dimitrova

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

Article in Clinical immunology (Orlando, Fla.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
4.9field-weighted citation impact, top 5% 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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. IKZF-associated inborn errors of immunity.Journal of human immunity · 2025
    Review
  3. Article
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

10 authors at 4 institutions in 2 countries.

Natchanun KlangkalyaImmunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA; Department of Pediatric, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Jennifer StoddardImmunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA.
Julie NiemelaImmunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA.
Jennifer SponaugleCenter for Immuno-Oncology, National Cancer Institute of the National Institutes of Health, Bethesda, MD, USA.
Irl Brian GreenwellDivision of Hematology and Medical Oncology, Hollings Cancer Center of the Medical University of South Carolina, Charleston, SC, USA.
Erin ReighSection of Allergy and Clinical Immunology, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Hye Sun KuehnImmunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA.
Jennifer A KanakryCenter for Immuno-Oncology, National Cancer Institute of the National Institutes of Health, Bethesda, MD, USA.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA. Electronic address: srosenzweig@cc.nih.gov.
Dimana DimitrovaCenter for Immuno-Oncology, National Cancer Institute of the National Institutes of Health, Bethesda, MD, USA. Electronic address: dimana.dimitrova@nih.gov.
National Institutes of Health Clinical Center · USNational Cancer Institute · USDartmouth–Hitchcock Medical Center · USMedical University of South Carolina · US

Funding

NIH Hematology Oncology Fellowship ProgramZIEBC010843 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI HILL, ELIZABETH · 2009 to 2025
$104.7M
Studies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0M
Intramural NIH HHS Z99 CL999999Intramural NIH HHS ZIA AI001122
6 · The paper itself

Abstract

IKAROS, encoded by IKZF1, is a tumor suppressor and a key hematopoietic transcription factor responsible for lymphoid and myeloid differentiation. IKZF1 mutations result in inborn errors of immunity presenting with increased susceptibility to infections, immune dysregulation, and malignancies. In particular, patients carrying IKZF1 gain-of-function (GOF) mutations mostly exhibit symptoms of immune dysregulation and polyclonal plasma cell proliferation. Herein, we describe seven new IKAROS GOF cases from two unrelated families, presenting with novel infectious, immune dysregulation and hematologic diseases. Two of the patients underwent allogeneic hematopoietic cell transplantation (HCT) due to poorly responsive complications. HCT was well-tolerated achieving full engraftment in both patients receiving reduced intensity, matched unrelated donor grafts, with no severe acute or chronic graft-vs-host-disease, and in remission from their diseases 2.5 and 4 years post-HCT, respectively. These results suggest that HCT is a valid and curative option in patients with IKAROS GOF disease and severe clinical manifestations.

Indexed as

Hematologic DiseasesHematopoietic Stem Cell TransplantationIkaros Transcription FactorGain of Function MutationHumansTransplantation ConditioningIkaros Transcription FactorIKZF1 protein, humanAllergyAutoimmunityImmune dysregulationInborn errors of immunityInfectionsMalignanciesPrimary immunodeficiencyTranscription factor

Identifiers

PMID38320737
PMCPMC10923168
OpenAlexW4391533504

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.