Evidence map›Paper›PMID 40364814›Full record

ArticleFrontiers in pediatrics2025

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.

Oded Shamriz, Amarilla Mandola, Amos J Simon, Atar Lev, Pierre Attal, Chen Nadler, Ortal Barel, Yulia Khavkin, Rachel Eisenberg, Raz Somech and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

11 authors.

Oded Shamriz *Allergy and Clinical Immunology Unit, Department of Medicine, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Amarilla Mandola *Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Tel-Hashomer Medical Center, Affiliated to the Sackler Faculty of Medicine, Edmond and Lily Safra Children's Hospital, Tel Aviv University, Tel Aviv, Israel.
Amos J SimonPediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Tel-Hashomer Medical Center, Affiliated to the Sackler Faculty of Medicine, Edmond and Lily Safra Children's Hospital, Tel Aviv University, Tel Aviv, Israel.
Atar LevPediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Tel-Hashomer Medical Center, Affiliated to the Sackler Faculty of Medicine, Edmond and Lily Safra Children's Hospital, Tel Aviv University, Tel Aviv, Israel.
Pierre AttalDepartment of Otolaryngology and Head and Neck Surgery, Shaare-Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Chen NadlerMaxillofacial Imaging, Department of Oral Medicine, Sedation and Imaging, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Ortal BarelThe Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.
Yulia KhavkinMaxillofacial Imaging, Department of Oral Medicine, Sedation and Imaging, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Rachel EisenbergAllergy and Clinical Immunology Unit, Shaare Zedek Medical Centre, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Raz SomechSheba Cancer Research Center and Institute of Hematology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Ori TokerAllergy and Clinical Immunology Unit, Shaare Zedek Medical Centre, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aim: Pediatricians are trained to identify recurrent or unusual infections in children, prompting evaluation for inborn errors of immunity (IEI). Some monogenic IEI, however, may present atypically. This study describes our experience with children diagnosed with activated phosphoinositide 3-kinase delta syndrome (APDS2) including unusual presentations. Methods: A retrospective review was conducted on two children diagnosed with APDS2 at Shaare Zedek and Sheba Tel-Hashomer Medical Centers in Israel. Both patients underwent immune assessments, genetic testing, and treatment between 2019 and 2024. Results: Two patients, a 17-year-old female (P1) and a 7-year-old male (P2), were diagnosed with APDS2 after presenting with recurrent juvenile parotitis (P1) and severe lymphadenopathy (P2). Immunologic evaluation revealed hypogammaglobulinemia and combined immune deficiency. Genetic testing identified Conclusion: This report highlights the clinical presentation of APDS2, a rare monogenic IEI in children, including the atypical manifestation of RJP and the common feature of lymphadenopathy. Pediatricians should stay vigilant for red flags of IEI during clinical evaluations, as early diagnosis and multidisciplinary care are crucial for effective management.

Indexed as

APDS2combined immune deficienciesinborn errors of immunityPIK3R1primary immune deficiencies (PID)

Identifiers

PMID40364814
PMCPMC12069451

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