Evidence map›Paper›PMID 40797221›Full record

ArticleOrphanet journal of rare diseases2025

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.

Daria S Fomina, Marina S Lebedkina, Elena N Bobrikova, Yulia D Yukhnovskaya, Anna A Roppelt, Olga A Mukhina, Ulyana A Markina, Yulia G Alexeeva, Ekaterina A Nikitina, Marcus Maurer and 3 more

Abstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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.

Daria S FominaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Marina S LebedkinaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia. marina.ivanova0808@yandex.ru.ORCID http://orcid.org/0000-0002-9545-4720
Elena N BobrikovaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Yulia D YukhnovskayaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Anna A RoppeltGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Olga A MukhinaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Ulyana A MarkinaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Yulia G AlexeevaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Ekaterina A NikitinaGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Marcus MaurerGA2LEN Urticaria Center of Reference and Excellence (UCARE), Institute of Allergology, Charité- Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Alexander V KaraulovDepartment of Clinical Immunology and Allergy, The First Sechenov State Medical University, Moscow, Russia.
Maryana A LysenkoGA2LEN Angioedema Center of Reference and Excellence (ACARE), Moscow Research and Clinical Center of Allergy and Immunology, Moscow Healthcare Department, City Clinical Hospital 52, Moscow, Russia.
Thomas ButtgereitGA2LEN Urticaria Center of Reference and Excellence (UCARE), Institute of Allergology, Charité- Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Data on hereditary angioedema with normal C1 inhibitor levels are currently limited. To date, only one Italian family with HAE-MYOF has been described, comprising exclusively female members. The angioedema (AE) of head and neck area with the teenage onset, triggered by menses and high fever episodes were identified. It is necessary to search for potential biomarkers in patients with HAE-MYOF. This case series reports two unrelated individuals from different families with symptoms onset of recurrent AE and identified myoferlin gene mutations. Due to limited knowledge about the clinical presentation, pathogenesis, and treatment response in HAE-MYOF, further data collection is essential.

Indexed as

Angioedemas, HereditaryCalcium-Binding ProteinsMembrane ProteinsMuscle ProteinsMutationAdolescentAdultFemaleHumansMalePedigreeRecurrenceCalcium-Binding ProteinsMembrane ProteinsMuscle ProteinsAngioedemaHereditary angioedemaMyoferlin

Identifiers

PMID40797221
PMCPMC12344933

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.