Evidence map›Paper›PMID 42688123›Full record

ArticleFrontiers in immunology2026

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

Francesco Delle Cave, Ivan Taietti, Annalisa Agostini, Francesca Compagno, Fabio Sirchia, Grazia Bossi, Daniela Montagna, Amelia Licari, Patrizia Comoli, Tommaso Mina and 2 more

Abstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 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

12 authors.

Francesco Delle Cave *Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Ivan Taietti *Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
Annalisa AgostiniPediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Francesca CompagnoPediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Grazia BossiPediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Daniela MontagnaPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
Amelia LicariPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
Patrizia ComoliPediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Tommaso MinaPediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Riccardo CastagnoliPediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
Marco ZeccaPediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the

Indexed as

Anemia, SideroblasticB-LymphocytesDevelopmental DisabilitiesFeverImmunologic Deficiency SyndromesNucleotidyltransferasesCytopeniaHumansMaleMutationNucleotidyltransferasesTRNT1 protein, humananemiaimmune dysregulationinborn errors of immunity (IEI)periodic fever and developmental delay syndrome (SIFD)precision medicineprimary immunodeficiencies (PID)sideroblastic anemia with B-cell immunodeficiencyTRNT1

Identifiers

PMID42688123
PMCPMC13533697

What OpenQuestion holds

Textmetadata
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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.