Evidence map›Paper›PMID 40295428›Full record

ArticleJournal of clinical immunology2025

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

Henry Y Lu, Maryam Vaseghi-Shanjani, Avery J Lam, Mehul Sharma, Arezoo Mohajeri, Leandro B R Silva, Jana Gillies, Gui Xiang Yang, Susan Lin, Maggie P Fu and 19 more

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

Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

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

29 authors.

Henry Y LuDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Maryam Vaseghi-ShanjaniDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Avery J LamBC Children's Hospital Research Institute, Vancouver, BC, Canada.
Mehul SharmaDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Arezoo MohajeriDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Leandro B R SilvaDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Jana GilliesBC Children's Hospital Research Institute, Vancouver, BC, Canada.
Gui Xiang YangDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Susan LinDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Maggie P FuDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Areesha SalmanDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Ronak RahmanianDivision of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
Linlea ArmstrongDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Jessica HalparinDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Connie L YangDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Mark ChilversDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Erika HenkelmanDivision of Plastic Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
Wingfield RehmusDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Douglas MorrisonDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Audi SetiadiDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Sara MostafaviDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Michael S KoborDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Frederick K KozakDivision of Otolaryngology - Head & Neck Surgery, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
Catherine M BiggsDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Clara van KarnebeekDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Kyla J HildebrandDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada.
Anna Lehman on behalf of the Care4Rare Canada Consortium
Megan K LevingsBC Children's Hospital Research Institute, Vancouver, BC, Canada.
Stuart E TurveyDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, 950 West 28 th Avenue, Vancouver, BC, V5Z 4H4, Canada. sturvey@bcchr.ca.

Funding

CIHR FDN-154304CIHR PJT 178054Genome British Columbia SIP007
6 · The paper itself

Abstract

Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human immune homeostasis and identifies potential precision medicine targets. Here, we provide a detailed immunological assessment of a pediatric patient with a recently discovered syndrome causing Immunodysregulation, Craniofacial anomalies, Hearing impairment, Athelia, and Developmental delay (or ICHAD syndrome). The immunodysregulation resulted in autoimmune hemolytic anemia (AIHA) and atopic dermatitis. The patient carried a de novo germline heterozygous c.406+540_574+13477dup;p.Gly136_Ser191dup variant in IKAROS family zinc finger 2 (IKZF2), which encodes HELIOS. This variant led to reduced HELIOS protein expression and dominant interference of wild-type HELIOS-mediated repression of the IL2 promoter. Multi-parameter flow cytometry analyses of patient peripheral blood mononuclear cells revealed strongly impaired natural killer cell differentiation and function, and increased CD8

Indexed as

Germ-Line MutationIkaros Transcription FactorChildFemaleHeterozygoteHumansIkaros Transcription FactorIKZF2 protein, human

Identifiers

PMID40295428
PMCPMC12037660

What OpenQuestion holds

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LicenceCC BY
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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.