Evidence map›Paper›PMID 41867723›Full record

ArticlebioRxiv : the preprint server for biology2026

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.

Nicole C Guilz, Yong-Oon Ahn, Seungmae Seo, Madrikha D Saturne, Matilde I Conte, Sana R Shehzad, Everardo Hegewisch-Solloa, Luis Alberto Pedroza, Micah Castillo, Preethi Gunaratne and 3 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Nicole C GuilzDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Yong-Oon AhnDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Seungmae SeoDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Madrikha D SaturneDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Matilde I ConteDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Sana R ShehzadDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Everardo Hegewisch-SolloaDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Luis Alberto PedrozaDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.
Micah CastilloDepartment of Biology and Biochemistry, University of Houston, Houston, TX.
Preethi GunaratneDepartment of Biology and Biochemistry, University of Houston, Houston, TX.
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, and Division of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX USA.
James R LupskiTexas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-9907-9246
Emily M MaceDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York NY.ORCID 0000-0003-0226-7393

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Differential regulation of cell cycle entry and apoptosis in cytolytic lymphocytes informed by primary immunodeficiencyR01AI189818 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Emily Margaret Mace · 2025 to 2026
$1.5M
NCI NIH HHS P30 CA013696NHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI189818
6 · The paper itself

Abstract

Here we describe a damaging heterozygous variant in CDC45 in an individual with common variable immunodeficiency (CVID) and recurrent viral infections. This individual has variably decreased number of circulating NK cells, disruption in the ratio of CD56

Indexed as

allelic biasCDC45CMG helicasecytotoxicityNK cellsprimary immunodeficiency

Identifiers

PMID41867723
PMCPMC13001467

What OpenQuestion holds

Textmetadata
LicenceCC BY-ND
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.