ReviewCurrent opinion in allergy and clinical immunology2015
Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.
Review in Current opinion in allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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.
Who cites it
17 citing papers in PubMed.
- Deleterious germline CARD11 gain-of-function variants alter human B-cell and CD4+ T-cell differentiation and function.Clinical and experimental immunology · 2026Article
- Data-driven projections of candidate enhancer-activating SNPs in immune regulation.BMC genomics · 2025Article
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- Host JAK-STAT activity is a target of parasitoid wasp virulence strategies.PLoS pathogens · 2024Article
- Article
- The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.Immunologic research · 2022Article
- Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.Frontiers in immunology · 2022Article
- Signaling through polymerization and degradation: Analysis and simulations of T cell activation mediated by Bcl10.PLoS computational biology · 2021Article
- Hallmarks of Cancers: Primary Antibody DeficiencyFrontiers in immunology · 2021Review
- Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly.Cellular immunology · 2020Article
- A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report.Medicine · 2019Article
- "Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.Frontiers in immunology · 2018Review
- Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease.Frontiers in immunology · 2018Review
- A Unique HeterozygousFrontiers in immunology · 2018Article
- The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.Frontiers in immunology · 2018Review
- Germline hypomorphic CARD11 mutations in severe atopic disease.Nature genetics · 2017Article
- Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells.Frontiers in immunology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
purpose of reviewTo present recent advances in the discovery and characterization of new immunodeficiency disorders linked to gain-of-function (GOF) mutations in immune signaling molecules. (Figure is included in full-text article.) RECENT
findingsIn the past 2 years, extensive cellular and molecular studies have illuminated the root causes of pathogenesis for several new monogenic primary immunodeficiency disorders (PIDs) linked to GOF mutations in signaling molecules. Here we discuss on two disorders (BENTA and APDS/PASLI) featuring shared clinical presentation (e.g. lymphoproliferation, selective antibody deficiencies, recurrent sinopulmonary infections). These findings highlight an emerging theme: both loss-of-function and gain-of-function mutations in key molecules can disrupt finely tuned immunoreceptor signaling modalities, resulting in the dysregulation of lymphocyte differentiation and impaired adaptive immunity. SUMMARY: Continued research on the molecular pathogenesis of PIDs defined by hyperactive signaling molecules will better distinguish these and related disorders, and pinpoint tailored therapeutic interventions for 'retuning' the immune response in these patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.