Evidence map›Paper›PMID 39499372›Full record

ArticleJournal of clinical immunology2024

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Cybel Mehawej, Eliane Chouery, Roula Farah, Alia Khalil, Setrida El Hachem, Sandra Corbani, Valerie Delague, Issam Mansour, Tarek Najemdeen, Rima Korban and 3 more

Abstract readCase Reports
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In one paragraph

Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Article
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.

Cybel MehawejDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon. cybel.mehawej@lau.edu.lb.
Eliane ChoueryDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Roula FarahDepartment of Pediatrics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Alia KhalilGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Setrida El HachemDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Sandra CorbaniDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Valerie DelagueAix Marseille Univ, INSERM, MMG, Marseille, U 1251, France.
Issam MansourMolecular Biology Laboratory, Faculty of Health Sciences, American University of Science and Technology, Beirut, Lebanon.
Tarek NajemdeenInovie Laboratory, Fayadieh, Lebanon.
Rima KorbanDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Wissam H FaourGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Gerard LefrancThe International ImMunoGeneTics Information System®, Laboratoire d'ImmunoGénétique Moléculaire, Institut de Génétique Humaine, UMR 9002 CNRS, Université de Montpellier, Montpellier cedex 5, France.
Andre MegarbaneDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon. andre.megarbane@lau.edu.lb.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane dynamics, including autophagy and endocytosis. Recent studies in rodents highlight the essential role of endophilin A2 in modulating immune responses. Here we report a homozygous frameshift variant in the SH3GL1 gene (NM_003025.3:c.427delC; p.Leu143Serfs*9), detected by whole exome sequencing in a 14-year-old boy with predominantly antibody deficiency. The patient who is issued from a consanguineous Lebanese family, presents since the age of 18 months with recurrent respiratory tract infections, low peripheral B cell counts and pan-hypogammaglobulinemia, with no history of opportunistic infections. This defect is associated with decrease in switched memory B cells development, impaired in-vitro B cell proliferation and diminished in-vitro IgG production. The detected variant in SH3GL1 segregates with the disease in the family. It significantly decreases the expression of the protein in the patient's peripheral blood compared to healthy controls, thus confirming its pathogenicity. Interestingly, endophilin A2-deficient Sh3gl1

Indexed as

Antibody FormationB-LymphocytesAcyltransferasesAdolescentExome SequencingFrameshift MutationHumansImmunoglobulin GMalePedigree2-acylglycerophosphate acyltransferaseAcyltransferasesImmunoglobulin GEndophilin A2Exome sequencingPredominantly antibody deficiencySH3GL1

Identifiers

PMID39499372

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.