Evidence map›Paper›PMID 40529371›Full record

ArticleFrontiers in immunology2025

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

Nourhen Agrebi, Rafah Mackeh, Mohamed Alsabbagh, Asha Elmi, Amnah A Al-Marri, Satanay Z Hubrack, Saleema C Purayil, Mohammed Yousuf Karim, Amel Hassan, Bernice Lo

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Article in Frontiers in immunology, 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

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Nourhen AgrebiTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Rafah MackehTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Mohamed AlsabbaghTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Asha ElmiTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Amnah A Al-MarriTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Satanay Z HubrackTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Saleema C PurayilAllergy & Immunology Division, Department of Medicine, Hamad Medical Corporation, Doha, Qatar.
Mohammed Yousuf KarimHematology, Immunology and Transfusion Division, Sidra Medicine, Doha, Qatar.
Amel HassanCollege of Medicine, Qatar University, Doha, Qatar.
Bernice LoTranslational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hyper-IgM syndrome (HIGM) is a genetic immunodeficiency characterized by elevated to normal IgM levels and decreased IgG, IgA, and IgE. The overlapping clinical presentations of different gene mutations complicate diagnosis and management. Objective: This study aims to elucidate the clinical implications of concurrent Methods: We present immunological and genetic analysis of a Tunisian patient with two homozygous variants of uncertain significance (VUSs) in the Results: Genetic analysis identified two homozygous variants: Conclusion: The simultaneous presence of multiple homozygous VUSs emphasizes a major challenge in the genetic diagnosis of highly consanguinous patients. Functional workup as well as familial segregation studies are needed to clarify variant pathogenicity and provide a definitive diagnosis and tailored treatment strategies for these patients. Our studies suggest that the

Indexed as

Hyper-IgM Immunodeficiency SyndromeI-kappa B KinaseMutationHomozygoteHumansTransmembrane Activator and CAML Interactor ProteinI-kappa B KinaseTNFRSF13B protein, humanTransmembrane Activator and CAML Interactor ProteinAICDAdiagnosis strategieshyper-IgM syndromeIKBKBVUS

Identifiers

PMID40529371
PMCPMC12171361

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