Genetic Diseases, X-Linked
Recent clinical, regulatory, research and industry developments relating to this disease.
BTK drives neutrophil activation for sterilizing antifungal immunity.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- Active recent publication activity.
- 2 clinical trials with recent milestones (2 completed or reporting results).
Research HighlightsViewHide
Clinical MilestonesViewHide
- 2026-03-10ClinicalA Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label ExtensionResults posted
- 2025-12-16ClinicalA Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)Completed
- 2025-08-29ResearchCase Report: X-linked agammaglobulinemia with progressive neurodegeneration from immunological to neurological implications.Chen X · 2025
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Agammaglobulinaemia Tyrosine Kinase1
- Agammaglobulinemia1
- Aspergillosis1
- Genetic Diseases, X-Linked1
- Genetic Therapy1
- Neurodegenerative Diseases1
- Neutrophil Activation1
- Neutrophils1
Leading journals4
- Frontiers in immunology1
- Nature medicine1
- Science immunology1
- The Journal of clinical investigation1
Leading researchers8
- Abel L1
- Abolhassani H1
- Aiuti A1
- Akcan OM1
- Al Ali F1
- Allende LM1
- Amara A1
- Arias AA1
Affiliations (unnormalised)6
- Avicenne Hospital1
- Bakirkoy Dr. Sadi Konuk Training and Research Hospital1
- Bascom Palmer Eye Institute1
- Beijing Children's Hospital1
- Casey Eye Institute1
- Catalan Institution of Research and Advanced Studies (ICREA)1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Related conditions
Diseases frequently studied alongside this one. Number shows shared papers.
Reference
Authoritative identity, definition & identifiers.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.