Publications by authors named "Aina Aguilo-Cucurull"
Article Synopsis
- TRAF3 is an adaptor protein involved in immune signaling pathways, and deficiencies in TRAF3 can lead to serious health issues, like recurrent infections and autoimmune conditions.
- A recent study reanalyzed genetic data from patients with immune disorders and discovered three new cases of TRAF3 mutations, which had previously been misdiagnosed as common variable immunodeficiency (CVID).
- These findings highlight the importance of targeted genetic reanalysis in understanding different clinical presentations of TRAF3 deficiency, and they provide new insights for further research on immune-related diseases.
Article Synopsis
- Common variable immunodeficiency (CVID) is a diverse group of disorders marked by low immunoglobulin levels, difficulty producing specific antibodies, and frequent infections, with complex genetic underpinnings that include both monogenic and polygenic factors.
- This study focused on investigating the effects of skewed X-chromosome inactivation (XCI) in female CVID patients with rare X-linked gene variants, finding that 75% of the patients analyzed showed skewed XCI with the mutated allele predominantly expressed.
- The findings suggest that skewed XCI plays a role in a small proportion of CVID cases among females, contributing to its intricate genetic landscape and supporting the idea of polygenic influences in the condition.
Article Synopsis
- Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes can't produce necessary reactive oxygen species, leading to severe bacterial and fungal infections due to specific gene mutations in the NADPH oxidase enzyme complex.
- The study focuses on analyzing genetic challenges related to X-linked CGD (XL-CGD) in three families, detailing unique mutations and their consequences at the molecular level.
- A range of advanced techniques, including next-generation sequencing and microarray analysis, were utilized to diagnose these uncommon genetic variants and their effects on splicing and gene expression in XL-CGD cases.
Article Synopsis
- Autoimmune lymphoproliferative syndrome (ALPS) is a rare immune disorder marked by issues with cell death regulation, leading to symptoms like lymph node enlargement, autoimmune issues, and higher lymphoma risk, along with a specific cell type (DNTs) accumulating in the body.
- Genetic mutations are a primary cause, often identified through a complex and expensive method called Sanger sequencing, which can be unreliable for some patients.
- This study introduced a newer method using deep amplicon sequencing to track a specific mutation (c.718_719insGTCG) over five years, successfully detecting it in various sample times and showing a strong link between DNT counts and the mutation’s presence.
SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recurrent sinopulmonary, cutaneous and mucosal infections, and autoimmune cytopenia.
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- X-linked agammaglobulinemia (XLA) is a genetic immunodeficiency that affects mainly males, leading to recurrent bacterial infections and a lack of B cells due to mutations in the BTK gene.
- A case study presented a child with XLA caused by a specific mutation (c.494G>A/p.C165Y), initially thought to be inherited from a mother who appeared unaffected.
- Further genetic analysis revealed that the mother had low-level gonosomal mosaicism for the mutation, changing the understanding of inheritance and highlighting the importance of accurate parental genetic assessment for counseling.
Article Synopsis
- Primary immunodeficiencies (PIDs) are a diverse group of over 350 genetic disorders that affect the immune system, with advancements in next-generation sequencing (NGS) aiding in the diagnosis.
- In a study involving 61 patients, clinical exome sequencing (CES) led to a genetic diagnosis in 31% of cases, identifying mutations in both specific PID-related genes and other unexpected genes.
- The findings highlight the complexity of PIDs, with some patients having incomplete or uncertain genetic information, and show that further testing can improve diagnosis rates to 42%.
Article Synopsis
- The study highlights the importance of establishing reference values for immunology lab tests to accurately diagnose immunodeficiencies in children.
- Researchers analyzed various lymphocyte subpopulations and T-cell receptor excision circles (TRECs) in healthy pediatric donors aged 1 month to 18 years, revealing how these values change with age.
- Findings include a decrease in naive T-cell populations with age and an increase in certain B-cell populations, providing crucial data for interpreting immune profiles and diagnosing immune-related conditions.