Recent Advances in
Primary
Immunodysregulation
Disorders

Bernice Lo

RAPID co-chair

PhD

Dr. Bernice Lo is a Principal Investigator in the Translational Medicine Division at Sidra Medicine and a Joint Assistant Professor at Hamad bin Khalifa University (Doha, Qatar). She has contributed to the discovery, diagnosis, and molecular understanding of inherited autoimmune disorders. Bernice performed her post-doctoral training under the leadership of Dr. Michael Lenardo in the Laboratory of Immunology at the National Institutes of Health in the US. She is trained in cell and molecular biology and genomic approaches for genetic diagnosis. During her fellowship, she helped discover and understand the etiology of two new diseases of immune dysregulation. She received her Ph.D. in Cell Biology at Duke University under the mentorship of Dr. Jo Rae Wright, where she began her appreciation for the immune system and the critical role of immune tolerance and regulation.

Mohammed Karim

RAPID co-chair

MBBChir, MSc, FRCP, FRCPath, FHEA

Chief, Division of Hematology/Immunology/Transfusion, at Sidra Medicine and Clinical Professor in Immunopathology, Qatar University. Yousuf studied medicine at Cambridge University and Guy’s & St Thomas’ Hospitals, qualifying in 1993 with Distinctions in Medicine and Pathology. He was Consultant Immunologist at Surrey Pathology Services 2004-18 and Clinical Lead in Immunology at Guy’s & St Thomas’ Hospitals, London 2006-14.

He was previously Chair of the Clinical Immunology Committee of the British Society for Allergy and Clinical Immunology, and is currently Country Advisor for Qatar for the Royal College of Pathologists. He is Steering Committee Chair for the “BASICS” project developing international recommendations for hypogammaglobulinemia secondary to B-cell therapies. He is co-Lead of the Sidra Immune Dysregulation Clinical Research Program. He has authored 100 publications and chapters, and received grant awards totaling $3.7 million.

Elif Karakoc Aydiner

IBB co-chair

MD, Professor

Department of Pediatrics
Marmara University
Türkiye

Prof. Elif is a faculty member in Pediatrics and Pediatric Immunology and Allergy at Marmara University Faculty of Medicine. She contributes to postgraduate education, research, and awareness activities through the Işıl Berat Barlan Academy and the EAACI Center of Excellence. She previously served as Head of Immunology, Pediatric Immunology-Allergy, and Pediatrics, and is completing a PhD thesis in medical education focused on faculty development, quality, and mentorship. Her research includes individualized immunoglobulin replacement therapies, COVID-19 infection, genetic background and targeted therapies in primary immunodeficiencies, food and respiratory allergies, tolerance mechanisms, and hereditary angioedema. She developed the formula for SÜTMEK®, a trademarked baked-milk oral immunotherapy product for persistent food allergy. Her work has received more than 3,000 citations, with an h-index of 33 (WOS). She also serves on several national and international executive committees and subcommittees in immunology, pediatrics, medical education, and patient advocacy.

Ahmet Özen

IBB co-chair

Professor of Pediatrics, Division of Allergy and Immunology
Marmara University, Istanbul
Turkiye

Dr. Ahmet Oğuzhan Özen, M.D., is Professor of Pediatrics and Chief of the Division of Pediatric Allergy and Immunology at Marmara University, Istanbul, Türkiye, and Director of the Istanbul Jeffrey Modell Foundation Centre. A graduate of Marmara University School of Medicine, he completed pediatric residency training, subspecialty training in Allergy and Immunology, and postdoctoral research at the National Institute of Allergy and Infectious Diseases, National Institutes of Health.

His research focuses on inborn errors of immunity, monogenic inflammatory bowel disease, complement dysregulation, and congenital protein-losing enteropathies. He helped establish Türkiye’s national monogenic inflammatory bowel disease network and has contributed to the identification of rare genetic immune disorders. His group played a key role in defining CD55 deficiency, or CHAPLE disease, work that supported the development and approval of pozelimab as a targeted therapy.

He founded the Marmara University Işıl Berat Barlan Centre for Translational Medicine and is involved in the MENAT Region Inborn Errors of Immunity Research Consortium Registry.

Safa Baris

IBB co-chair

MD

Marmara University Hospital, Isil Barlan Translational Medicine Research Center
Istanbul, Türkiye

Safa Baris is a physician-scientist and Professor of Pediatric Immunology and Allergy at Marmara University Hospital in Istanbul, Türkiye. His research focuses on the clinical and translational aspects of inborn errors of immunity, particularly disorders of immune dysregulation, including LRBA deficiency, CTLA-4 insufficiency, IPEX syndrome, and STAT1- and STAT3-gain-of-function diseases.

He has made significant contributions to the discovery and characterization of novel IEIs. His work was instrumental in defining STAT6 GOF and demonstrating the efficacy of targeted therapies, particularly JAK inhibitors, in controlling disease manifestations. He also contributed to the identification and mechanistic understanding of a novel homozygous form of CTLA-4 deficiency.

He established one of the largest cohorts of patients with LRBA deficiency and CTLA-4 insufficiency, generating important insights into disease mechanisms and long-term outcomes of targeted therapies such as abatacept. He currently leads international efforts to develop evidence-based diagnostic and therapeutic guidelines and an ESID-supported treatment consensus for these disorders.

Abdulrahman Ahmed Al-Subaiey

Post Doctoral Fellow • Laboratory of Immunoregulation
Sidra Medicine

Dr. Abdulrahman Ahmed Al-Subaiey is a Postdoctoral Fellow in the Immune Dysregulation Research Program at Sidra Medicine, where his research focuses on immune-mediated neurological disorders, pediatric autoimmunity, and the discovery of novel disease-causing autoantibodies using advanced genomic and proteomic technologies. He holds a Ph.D. from Hamad Bin Khalifa University, an M.Sc. in Neuroscience with Distinction from University College London, and a B.Sc. in Biological Sciences from Carnegie Mellon University in Qatar with University and College Honors.

Dr. Al-Subaiey has authored multiple peer-reviewed publications and is actively involved in advancing precision medicine, rare disease research, and translational immunology. He is the recipient of the inaugural Qatar Foundation Alumni Rising Star Award, awarded by Her Highness Sheikha Moza bint Nasser. Beyond his scientific work, he is passionate about fostering partnerships that accelerate healthcare innovation and research impact.

He currently serves as Lead – Business Communications & Outreach for RAPID 2026 and has held the same role for the Precision Medicine and Future of Genomics  (PMFG) Summit for the past two years. In these capacities, he leads strategic partnerships, sponsorship development, stakeholder engagement, and external relations, helping connect researchers, industry leaders, policymakers, and philanthropic partners to advance scientific collaboration and innovation.

Bandar K Al Saud

MBBS, FRCPC, GDCE, FAAAAI   

Consultant Allergist/Immunologist
Department of Pediatrics
King Faisal Specialist Hospital & Research Center
Associate Professor, Alfaisal University

Dr. Bandar Al Saud, MBBS, FRCPC, is a Consultant in Pediatric Allergy and Immunology at King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia, and an Associate Professor at Alfaisal University. He completed his medical degree at King Saud University, followed by specialty training in Pediatrics and subspecialty training in Allergy and Immunology through the Royal College of Physicians and Surgeons of Canada. He also holds a Graduate Diploma in Clinical Epidemiology from McMaster University. Dr. Al Saud has held several leadership roles, including Head of the Pediatric Allergy/Immunology Section, Director of the Fellowship Training Program, and Vice President of the Saudi Allergy, Asthma, and Immunology Society. His interests include clinical and basic research, particularly primary immunodeficiency diseases, and he established the Saudi Primary Immunodeficiency Disease Registry at KFSHRC. He has authored 56 peer-reviewed publications.

Aisha Elmarsafy

MD, PhD Pediatrics

Emeritus Professor of Pediatrics, former Head of IEI Unit, Faculty of Medicine, Cairo University 

My interest in IEI started as early as 1982-1983 as I received training at Lyon, Hopital Edouard Herriot.

I initiated the first IEI Unit in Egypt in the year 2000.

Member of ESID - ASID - CIS

Contributed to increased awareness about IEI throughout Egypt

Helped in improving diagnosis of IEI i Egypt, including molecular diagnosis.

Helped with providing appropriate therapy/intervention to IEI patients in Egypt.

Hamoud Al-Mousa

MD

Professor & Consultant Pediatric Allergy & Immunology
Department of Pediatric
King Faisal Specialist Hospital & Research Center
Riyadh, Saudia Arabia

Hamoud Al-Mousa, MD, is a Professor and Consultant of Pediatric Allergy and Clinical Immunology at King Faisal Specialist Hospital and Research Centre (KFSH&RC) in Riyadh. His clinical and research interests focus on primary immunodeficiency disorders and hematopoietic stem cell transplantation. He is a clinician-scientist and a co-founder of the Immunogenetics Unit within the Department of Genetics at the KFSH&RC Research Centre. Dr. Al-Mousa currently serves as Head of the Pediatric Allergy and Immunology Section. He is deeply involved in clinical care, research, and educational activities, and leads multiple ongoing research projects with numerous publications in the field of primary immunodeficiency disorders.

Maryam Al-Nesf Al-Mansouri

Associate Professor in internal Medicine, college of Medicine-QU
Adj Ass Professor Weill Corneal Medical college-Qatar

Dr. Maryam Ali Al-Nesf Al-Mansouri is an Associate Professor of Internal Medicine at the College of Medicine, Qatar University, and Adjunct Associate Professor at Weill Cornell Medicine-Qatar. She has headed the Allergy and Immunology Division at Hamad Medical Corporation since 2016 and previously served as Program Director of the ACGME-I accredited combined Pediatric and Adult Allergy and Immunology Fellowship Program until June 2026. She is also core faculty in Qatar’s Internal Medicine Residency Program. Dr. Al-Nesf earned her MD from Sultan Qaboos University and the Arab Board in Internal Medicine, completed advanced fellowships in Qatar and Cambridge, UK, and holds an MScR in Molecular Medicine from the University of Bristol. She is pursuing a Ph.D. in Molecular Medicine at University College London. Her work includes multiple Qatar Foundation and HMC research grants, more than 100 publications, guideline contributions, and leadership of Qatar’s pollen and fungal calendar and atlas.

Chiara Cugno

MD

Division Chief - Hematology, Oncology, BMT
Acting Chief Hematology, Oncology and BMT
Director | Advanced Cell Therapy Core

Dr. Chiara Cugno is the Acting Chief of Hematology and Oncology at Sidra Medicine. Since joining Sidra Medicine in April 2014 as Bone Marrow Transplant Program Manager, she has held several leadership roles, including Director of the Advanced Cell Therapy Core, Attending Physician in Hematology and Oncology, and Acting Executive Director of Core Facilities.

Dr. Cugno provides care for children with a wide range of hematological and oncological conditions, including leukemia, lymphoma, solid tumors, bone marrow failure syndromes, hemoglobinopathies such as thalassemia and sickle cell disease, primary immunodeficiencies, and patients undergoing hematopoietic stem cell transplantation. She is also actively involved in the delivery of advanced cell and gene therapies, including CAR-T therapies and Casgevy.

Prior to joining Sidra Medicine, Dr. Cugno worked as an Attending Physician in Pediatric Hematology, Oncology and Bone Marrow Transplantation in Italy at Azienda Ospedaliera Integrata in Verona and IRCCS Policlinico San Matteo in Pavia. In addition to her clinical responsibilities, she leads translational and clinical research programs focused on cell and gene therapy, immunotherapy, and pediatric blood disorders and cancers.

Sharon Bout-Tabaku

MD, MSCE

Division Chief
Sidra Medicine

Dr. Bout-Tabaku is Division Chief of Pediatric Rheumatology. She practiced at Nationwide Children’s Hospital in Columbus, Ohio, USA for 8 years. She was a portfolio coach/mentor for medical students at The Ohio State University College of Medicine. Her research focused on the effects of obesity on the musculoskeletal system, specifically on pain, function and performance.

Dr. Bout-Tabaku has developed a clinical practice in general rheumatology, and has developed a multidisciplinary clinic to provide ophthalmology screening for patients with juvenile arthritis. She has developed several quality initiatives to ensure high quality patient services.

Dr.Bout-Tabaku teaches pediatric rheumatology to students from Weill Cornell Medical School and from Qatar University.

Dr. Bout-Tabaku research focus at Sidra Medicine has been in the genomics of rare inflammatory disease and in the pharmacogenomics of juvenile idiopathic arthritis.

Dr. Bout-Tabaku is a peer reviewer for multiple pediatric rheumatology journals and has spoken at regional and international meetings.

Buthaina Al Adba

MBBS, CABP

Senior Attending Physician
Sidra Medicine

Dr. Buthaina Al Adba is a Senior attending physician at Sidra Medicine. Assistant Professor of Clinical Pediatrics Weill Cornell Medicine-Qatar . Assistant program director for the Rheumatology fellowship program . The executive committee's chairperson for the Pediatric Rheumatology Arab Group. Member of Qatari Physician Association. Member at American Collogue of Rheumatology . Dr. Buthaina Al Adba is a senior attending physician at Sidra Medicine. She obtained her medical degree at King Faisal University in Saudi Arabia, followed by a pediatric residency at Hamad Medical Corporation.  Dr. Al Adba is certified by Arab Board Health Specialization in general pediatric (CABP) in 2011. She completed fellowship training in Pediatric Rheumatology in Sickids Hospital at Toronto, Canada in 2015.

Dr Al Adba established a multi-disciplinary clinic to treat Aicardi Goutieres Syndrome with a team approach.  She won the “Outstanding Patient Experience” award at Sidra.  Dr Al Adba is a peer reviewer for the Pediatric Rheumatology Online

Mehdi Mohammed Al-Adeli

MD, FAAAAI, FACAAI, FAAP, A.B.A.I, A.B.P

Senior Pediatrics, and Allergy, and Clinical Immunology Consultant
The View Hospital

Mehdi Mohammed Al-Adeli, MD, FAAAAI, FACAAI, FAAP, A.B.A.I, A.B.P., is a consultant in pediatrics, allergy, and clinical immunology. He earned his medical degree from Damascus University Medical School and holds board certifications in Pediatrics, Allergy and Immunology, and the Arab Board in Pediatrics. He worked at Hamad Medical Corporation as Senior Attending in Pediatrics and later in Allergy and Clinical Immunology before joining Sidra Medicine in 2017, where he served as Chief of the Pediatric Allergy and Immunology Division, Allergy and Immunology Fellowship Program Director, and Assistant Professor at Weill Cornell Medicine–Qatar. In 2024, he moved to private practice at The View Hospital, Qatar.

Dr. Al-Adeli has contributed significantly to allergy and immunology in Qatar, including establishing the Qatar National Neonatal Screening Program for Severe Combined Immunodeficiency, the Qatar National Registry for Primary Immunodeficiency Diseases, and the Aeroallergens Mapping Project. He also launched the Allergy and Immunology Awareness Program to improve patient education. His academic output includes more than 70 peer-reviewed articles, numerous conference presentations, book chapters, and educational resources in Arabic and English. His work has been recognized nationally and internationally through several awards, including Hamad Medical Corporation Stars of Excellence awards and honors for contributions to primary immunodeficiency and pediatric allergy care.

Deniz N. Cagdas Ayvaz

MD, PhD

Head of the Pediatric Immunology Division
Professor of Pediatrics
Hacettepe University Medical School
İhsan Doğramacı Children's Hospital
Institute of Child Health
Department of Pediatrics
Division of Pediatric Immunology
Ankara, TURKEY

After working on pediatric cardiology for four years, she completed Pediatric Immunology/Allergy subspecialty, PhD in Immunology, studied as a visiting scientist at Rockefeller University, Harvard University, and the NIH-NIAID, was awarded a certificate from the Fulbright Foreign Scholarship Board and The Bureau of Educational and Cultural Affairs of the United States Department of State after completion of the Fulbright Scholarship Program at the NIH-NIAID. She has worked as a professor since 2018, and been working as the head of the Immunology Department since 2022, has more than 40 scientific projects founded by national/international grants. She is interested in autoimmunity/immune dysregulation/lymphoproliferation/cancer pathogenesis/transplantation immunology/aging immunity. She has made contributions to the epidemiological mapping and clinical management of inborn errors of immunity and contributed to defining new primary immunodeficiency genes (RASGRP1, IL6ST, and GIMAP6) with over 600 publications, including over 216 articles in Pubmed (Web of Science: >3000 citations, h index 28).

Yazan Said

MD

Senior Attending Physician
Sidra Medicine, Qatar

Yazan Said is a Senior Consultant specializing in Allergy, Clinical Immunology, and Pediatric Pulmonology at Sidra Medicine since July 2024. He earned his medical degree from University of Jordan in 1991, completed pediatric residency in New York, and obtained American Boards in Pediatrics and Allergy/Immunology by 1999. He further trained in pediatric pulmonology in California. He held leadership roles including heading the Advanced Pediatric Pulmonary Center in Florida and the Pediatric Pulmonary/Allergy section at King Fahad Specialist Hospital in Saudi Arabia. He has served on several international advisory boards and professional societies, organized numerous specialized conferences and had many publications. His expertise and research included: primary immunodeficiency, immunotherapy, cystic fibrosis, chronic urticaria, severe asthma, eosinophilic esophagitis, and early onset IBD.

Imen Ben Mustapha

MD

Professor of Immunology
Head of the Laboratory of Cyto-Immunology
Laboratory of Transmission, Control and Immunobiology of Infections
Institut Pasteur de Tunis

Imen Ben-Mustapha is Professor of Immunology at the University of Tunis El Manar and the Pasteur Institute of Tunis.

She received her MD from the University of Tunis and her MSc from Pierre et Marie Curie University in Paris.

She currently leads the National Reference Laboratory for Inborn Errors of Immunity (IEI) at the Pasteur Institute of Tunis.

She is also a member of the National Immunization Technical Advisory Group.

Her current work focuses on uncovering the immunological mechanisms underlying IEI with atypical presentation.

Pere Soler Palacín

MD, PhD, MSc.

Cap del servei de Pediatria.
Hospital Infantil Vall d’Hebron. Vall d’Hebron Barcelona Hospital Campus
Professor agregat. Universitat Autònoma de Barcelona (UAB)
Passeig de la Vall d’Hebron, Barcelona

Head of the Department of Pediatric at the Children’s Hospital, Vall d’Hebron Barcelona Hospital Campus. Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies. Leader of the Infection and Immunity in Pediatric Patients Research Group at the Vall d’Hebron Research Institute (VHIR). Local Coordinator for the European Reference Network on Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN-RITA).Scientific output includes over 25 research projects, more than 300 peer-reviewed publications, and over 250 scientific communications. Full Professor at the Universitat Autònoma de Barcelona. Pediatric Expert for the European Medicines Agency. Member of the Spanish Board of Orphanet. President of the Barcelona Primary Immunodeficiency Foundation (PID Foundation). Medical Consultant to the Catalan Association for Immune Deficiencies (ACADIP).