Laboratory of Immunology and Primary Immunodeficiencies – PIDLAB [NI-SERV-2020-07]

PIDLAB – Aiming for better diagnostic approaches in Primary Immunodeficiency and Immune disorders

OPPORTUNITY TO BE PROMOTED

Service Provision / Expertise

OVERVIEW

The Laboratory of Immunology and Primary Immunodeficiencies (PIDLAB) at NOVA Medical School was created to address the increasing need for specialised diagnostic and monitoring services for patients with immune-related disorders.

Since 2010, our multidisciplinary team has been at the forefront of implementing advanced laboratory assays that support clinicians in the diagnosis, follow-up, and personalised management of these patients. Alongside our diagnostic activities, we actively participate in research projects aimed at deepening the understanding of immune mechanisms underlying various diseases, always with the goal of improving patient care.

Our diagnostic work focuses on the laboratory diagnosis and follow-up of patients with immunological disorders, from Primary Immunodeficiencies (PIDs) / Inborn Errors of Immunity (IEIs), to allergic and autoimmune diseases. We have also been involved in evaluating the immune profile and predictive prognostic parameters, in the context of SARS-COV2 infection, and in severe systemic diseases (pancreatitis). In recent years, we have also been dedicated to the study of the immunologic profile of women during pregnancy, labour and post-partum, exploring the potential role of the immune system in pregnancy complications and reproductive failure.

Although clinically diverse, PID/IEIs often present with recurrent or severe infections from early childhood. However, the clinical spectrum is rapidly expanding to include autoimmune and autoinflammatory conditions, lymphoproliferation, malignancy, and even allergic manifestations. Regardless of presentation, early and accurate diagnosis, enabled by state-of-the-art laboratory methodologies, is essential to ensure the timely initiation of targeted therapies.

Our work also spans allergic and autoimmune diseases, highly prevalent conditions that significantly impact quality of life, whether or not related to PIDs/IEIs. We have been particularly involved in studies on Sjogren’s syndrome (SjS), exploring associations between lymphocyte subpopulations and disease activity and severity.

In the field of allergy and hypersensitivity, we investigate recurrent wheeze and asthma, drug allergy (severe delayed reactions) and food allergy, namely cow’s milk allergy, characterising how the immune profile of allergic children evolves after oral immunotherapy. More recently, we have expanded this research to atopic conditions in both pregnant and non-pregnant women, examining the immune mechanisms underlying the impact of asthma on pregnancy, and how maternal immune modulation may influence allergic manifestations in offspring.

Furthermore, the establishment of strong collaborations with Obstetrics and Gynaecology departments across Lisbon hospitals enabled the development of a robust research line in Reproductive Immunology. Through these studies, we aim to advance the understanding of the immune mechanisms underlying reproductive health and disease, paving the way for improved insight into the intricate balance between maternal, foetal cells, and mediators that leads to successful pregnancy and childbirth.

Together, these integrated efforts position PIDLAB as a national reference in translational immunology, combining clinical diagnostics, immune monitoring, and cutting-edge research to improve patient outcomes and expand knowledge in human immunoregulation.

COMPETITIVE ADVANTAGES

In Portugal, we were pioneers in implementing the EuroFlow™ consortium strategies for the study and diagnosis of Primary Immunodeficiencies.

While our main service area is the southern region of the country, our expertise and unique assays allow us to collaborate with clinical centres nationwide, particularly in the monitoring of adult and paediatric patients with hemophagocytic syndromes – with a palette of tests not available elsewhere in Portugal.

APPLICATIONS

Our laboratory integrates advanced technologies to provide a comprehensive immune profiling. We analyse immune cell phenotypes and functions, as well as key biomarkers such as antibodies and cytokines, using diverse immunoassay platforms.

We are proud to have been the first laboratory in Portugal to adopt the Euroflow consortium’s strategies for PID diagnostics, and our work is strengthened also by the participation in international quality assessment programs for PID/IEI diagnostic, ensuring the highest analytical and scientific standards.

TECHNOLOGIES AND CAPABILITIES

Our laboratory is equipped with state-of-the-art flow cytometry and immunoassay platforms, with CE-IVD certification, that enable comprehensive immune profiling:

• Flow Cytometry: 8-color BD FACSCanto II flow cytometer;
• Functional Immune Assays: Evaluation of immune cell activation, cytokine production, proliferative capacity, degranulation potential, and oxidative burst, among others;
• Serological & Immunoassay Platforms: Quantification of antibodies, autoantibodies, and diverse inflammatory biomarkers;
• Cytokine Profiling: Multiplex analysis for precision monitoring of diverse immune and inflammatory biomarkers;
• Specialised allergy testing: currently we also have been developing our offer regarding the diagnostic approach of allergic reactions, with the implementation of BAT and TTL testing for food and drug allergies.

TRAINING AND COLABORATION

The PIDLAB serves as a training hub for students, residents (pediatrics, allergy, clinical pathology), and postgraduates in biomedical and clinical sciences.

We welcome national and international trainees through collaborative programs, sharing our experience in advanced immunological diagnostics.

We maintain active partnerships with:

• Hospitals across Portugal;
• The EuroFlow™ consortium;
• Research units, such as NMS Research and CHRC (Comprehensive Health Research Centre);
• International academic and clinical collaborators.

CLINICAL AND RESEARCH INTEGRATION

PIDLAB operates at the intersection of clinical diagnostics and scientific research.

We actively collaborate with hospital units and research centres across Portugal to:

• Develop and validate novel diagnostic approaches;
• Participate in national and European research networks;
• Translate immunological insights into better patient care.

Our team also contributes to peer-reviewed publications and PhD projects on immunophenotyping, immune dysregulation, reproductive immunology, autoimmune and allergic diseases. A small overview of more recent published research is found below:

1. Ângelo-Dias M, Martins CG, Mata M, Barata M, Chung A, Sarzedas S, Fernandes E, Appleton C, Lima J, Borrego LM. Immunological Reference Intervals in Pregnancy: Longitudinal Analysis of Adaptive Lymphocyte Subsets. Front Immunol. 2025;16:1634176. doi: 10.3389/fimmu.2025.1634176
2. Torres-Valle A, Neirinck J, Silva SL, de Arriba S, Serrano C, Cordón L, Arenas-Caro PP, Subirá D, Mercado MR, González Granados LI, Martins C, Kalina T, Balastegui-Martín H, Cabanero-Navalon MD, Marcos M, Ines S, Contreras T, Prieto C, Guerrero L, García Cañadas MC, Cordeiro AI, Albarran B, Gómez NG, Hurtado G, Barez A, Madruga I, García-Sancho AM, Bastida JM, Davila I, Aragon L, Requejo Olaizola PM, Hofmans M, De Vriendt C, Blanco E, Jara-Acevedo M, Kerre T, Sempere A, Haerynck F, Prada Á, Sousa AE, Bonroy C, van Dongen JJM, Pérez-Andrés M, Orfao A; EuroFlow Consortium. Immunological biomarkers of non-infectious complications and overall survival in common variable immunodeficiency. J Allergy Clin Immunol. 2025 Oct 30: S0091-6749(25)01079-6. doi: 10.1016/j.jaci.2025.10.020. Epub ahead of print. PMID: 41176068.
3. Martins CG, Ângelo-Dias M, Chasqueira MdJ, Brito MJ, Silva TM, Matos MV, Lopes MT, Crespo H, Mata M, Borrego LM, et al. SARS-CoV-2 Infection in Children: Revisiting Host–Virus Interactions Through Post-Infection Immune Profiling. Pathogens. 2025; 14(9):838. doi.org/10.3390/pathogens14090838
4. Reis JL, Rosa NN, Martins C, Ângelo-Dias M, Borrego LM, Lima J. The Role of NK and T Cells in Endometriosis.NInt J Mol Sci. 2024 Sep 21;25(18):10141. doi: 10.3390/ijms251810141
5. Malheiro F, Ângelo-Dias M, Lopes T, Martins CG, Borrego LM. Cytokine Dynamics in Acute Pancreatitis: The Quest for Biomarkers from Acute Disease to Disease Resolution. J Clin Med. 2024 Apr 15;13(8):2287. doi: 10.3390/jcm13082287.PMID: 38673560

CONTACT

Laboratory of Immunology and Primary Immunodeficiencies
NOVA Medical School – Main Building
Campo dos Mártires da Pátria, 130
1169-056 Lisbon

Phone: 00351 218803045

E-mail: imunologia@nms.unl.pt

FURTHER DETAILS

More information and relevant publications available at:

https://www.nms.unl.pt/en-us/community/clinical-services/detail/serviceid/5381