Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel

Wei Li, Jinrong Li, Decheng Jiang, Xiao Fu, Ping Li

Abstract readReviewCase Reports

In one paragraph

Review in Genes, 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

5 authors.

Wei LiDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.ORCID 0000-0003-4632-0248

Jinrong LiDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.ORCID 0000-0003-1200-3842

Decheng JiangDepartment of General Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100023, China.

Xiao FuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

Ping LiDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSpondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive disorder caused by biallelic variants in the MATERIALS AND

methodsWe conducted a detailed clinical, immunological, radiological, and molecular evaluation of an infant with early-onset cytopenia, recurrent infections, seizures, and developmental delay. Genomic analysis was performed using whole exome sequencing (WES) and copy number variation sequencing (CNV-seq). In addition, we performed a structured narrative review of published

resultsGenomic analysis identified an

conclusionsThis study reports a novel

Indexed as

OsteochondrodysplasiasTartrate-Resistant Acid PhosphataseAutoimmune DiseasesCytopeniaExome SequencingGenotypeHumansInfantMutationPhenotypeACP5 protein, humanTartrate-Resistant Acid PhosphataseACP5autoimmunityimmunodeficiencyskeletal dysplasiaspondyloenchondrodysplasia

Identifiers

PMID42074507

DOI10.3390/genes17040390

PMCPMC13116650

What OpenQuestion holds

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Registered trials

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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.