- Our Immunology team has published a new paper in the Journal of Clinical Immunology in collaboration with San Carlos Clinical Hospital in Madrid.
- The study revealed that immunodeficiencies developed by many lymphoid malignancy patients are not secondary or acquired within the context of the disease, but are caused by inborn errors of immunity.
Madrid, November 11, 2024
Many patients with hematolymphoid malignancies (particularly those with B-cell lymphoproliferative disorders) develop immunodeficiency. These immunodeficiencies are generally considered secondary or acquired within the context of the disease.
A new study published in the Journal of Clinical Immunology questions whether the development of these immunodeficiencies is really secondary to malignancy or has an underlying primary cause. Our Head of Immunology, Jose María García Aznar, has taken part in this study, directed by Silvia Sánchez-Ramón, Head of the Immunology Department at the San Carlos Clinical Hospital in Madrid.
The findings were revealing: 66% of the studied patients carried at least one pathogenic or likely pathogenic variant in genes associated with inborn errors of immunity. This suggests that, in many cases, these immunodeficiencies previously considered secondary could actually constitute “suspected primary immunodeficiencies”.
To reach this conclusion, an AI-based machine learning algorithm was implemented; this algorithm took into account the most significant clinical variables in order to develop a model that could differentiate between both groups.
The importance of differentiating between primary and secondary immunodeficiencies
The idea that patients with immunodeficiency within the context of BCLPD (B-cell chronic lymphoproliferative disorders) can have a late-onset primary immunodeficiency (PID) is an increasingly topical subject of debate. Due to the clinical similarities between both entities, their mild symptom spectrum, and the lack of thorough immunodeficiency-focused clinical examinations, many PIDs could remain hidden until their debut in the form of a malignant lymphoproliferative disorder.
Understanding the variables that differentiate these two groups may help tailoring diagnostic and treatment strategies to the specific needs of the patients, potentially leading to improved outcomes. Primary immunodeficiencies are associated with a higher risk of developing hematological malignancies with respect to the general population. Therefore, identifying a late-onset PID in patients with hematological malignancies and immunodeficiency could be essential for early prevention of infections and, ultimately, to improve prognosis by providing more specific or tailored therapies.
Moreover, these patients may present with an atypical clinical behavior and may be more vulnerable to complications related to infections and to the immune system. Therefore, their treatment protocols may require adjustments or the integration of targeted therapies.
Conventional, aggressive anti-tumor therapies could exacerbate the immunological status of the patients with suspected primary immunodeficiency, increasing their susceptibility to infections and organ damage, hence the importance of early identification of the origin of their immunodeficiency.
Follow this link to read the estudy.
