Recent Advances in
Primary
Immunodysregulation
Disorders

Anas M Alazami

D.Phil (Oxf.)

Acting Chairman, Translational Genomics
Senior Scientist & Head, Immunogenomics
Genomic Medicine Centre of Excellence
King Faisal Specialist Hospital & Research Centre

Anas M Alazami is Acting Chairman of the Translational Genomics Department and Senior Scientist at the Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Centre (KFSHRC), Riyadh. He leads multidisciplinary programmes spanning immunogenetics, developmental genetics, neurogenetics, metagenomics, and gene therapy, with a focus on translating genomic discoveries into clinical practice. He obtained his DPhil from the University of Oxford and has made significant contributions to the discovery and characterization of numerous human disease genes, particularly in rare genetic disorders. He has authored more than 75 peer-reviewed publications and is an invited speaker at national and international meetings. His current work integrates genomics, functional studies, and multi-omics approaches to improve the diagnosis and understanding of rare diseases.

Cybel Mehawej

PhD

Associate Professor
Gilbert and Rose-Marie Chagoury School of Medicine
Lebanese American University

Dr. Cybel Mehawej earned her PhD in genetics from Paris Descartes University in 2013 then completed her postdoctoral training in Immunogenetics at Boston Children’s Hospital, Harvard Medical School. In 2018, she contributed to the implementation of the newborn screening for severe combined immunodeficiency in Lebanon. She is currently Associate Professor at the Gilbert and Rose-Marie Chagoury school of medicine at the Lebanese American University.

Dr. Mehawej’s research focuses on the genetic basis of inborn errors of immunity. She recently contributed to the discovery of two novel genes implicated in primary immunodeficiency. Dr Mehawej has authored more than 50 peer-reviewed publications, presented her work at international scientific meetings, and received several distinctions, including the Franco-Lebanese Medical Association Excellence Award (2012), the ASHG Resource-Limited Country Award (2023), the L’Oréal-UNESCO For Women in Science Levant Young Talent Award (2023), and the LAU Research Excellence Award (2024).

Talal Chatila

MD, M.Sc.

Denise and David Bunning Professor of Pediatrics
Harvard Medical School
Division of Immunology
The Boston Children's Hospital

Talal A. Chatila is the Denise and David Bunning Professor of Pediatrics, Harvard Medical School, and Senior Physician and Director of the Program in Translational Immunology, Division of Immunology, Boston Children's Hospital. His research elucidates how immune tolerance breaks down in monogenic disorders of immunity and in common allergic and autoimmune diseases. This work mapped several genetic pathways controlling tolerance and targeted by mutations, including the original identification of human FOXP3 mutations and the subsequent discovery of networks involving DOCK8, LRBA, IL4R and STAT6. More recently, his group has defined mechanisms by which the commensal microbiota and Notch-pathway signals control regulatory T (Treg) cell function, including a Treg cell axis linking the gut and the brain, and established how pathogenic Treg cell reprogramming precipitates tolerance breakdown. The long-term goal is to develop therapies that re-establish tolerance in diseases of immune dysregulation through Treg cell-specific molecular and metabolic interventions.

Kimberly C. Gilmour

Ph.D., FRCPath

Chief of Laboratory Medicine
Consultant Clinical Scientist, Clinical Lead Immunology and Director of Cell Therapy
Camelia Botnar Laboratories
Great Ormond Street Hospital for Children NHS Foundation Trust
London, UK

Dr Kimberly Gilmour is Chief of Laboratory Medicine, Clinical Lead for Immunology, and Director of Cell Therapy at Great Ormond Street Hospital, London. She obtained her PhD from the State University of New York at Stony Brook. Following a research fellowship at Cancer Research UK, she was appointed by Great Ormond Street Hospital to translate her doctoral research into clinical diagnostics and subsequently gained Fellowship of the Royal College of Pathologists. In her current role, Kimberly oversees the processing and production of cell and gene therapy products. In collaboration with the Molecular Genetics department, she developed and manages the national service for diagnosing transplantable primary immunodeficiencies. Kimberly specialises in translational research, with a focus on developing assays to diagnose patients with primary immunodeficiency and to support the treatment and monitoring of patients following cell and gene therapies.

Raed Alzyoud

MBBCh.

Consultant Pediatrician
Head, Section of Immunology, Allergy, and Rheumatology
Global Clinical Scholars Research Training Program (Harvard Medical School)
Queen Rania Children’s Hospital
Jordanian Royal Medical Services
Amman, Jordan

Dr. Raed Alzyoud is a Consultant Pediatric Allergy and Immunology specialist with extensive clinical, academic, research, and leadership experience across Jordan, Qatar, the United Arab Emirates, and the United States. His expertise includes pediatric immunology, allergy, rheumatology, primary immunodeficiency disorders, fellowship training, multidisciplinary care, and clinical research.

He completed fellowships in Immunology, Allergy, and Rheumatology at Queen Rania Children’s Hospital and Boston Children’s Hospital, and completed the Global Clinical Scholar Research Training Program at Harvard Medical School. He is board certified in Allergy and Clinical Immunology.

Dr. Alzyoud previously served as Chief of the Pediatric Immunology, Allergy, and Rheumatology Division at Queen Rania Children’s Hospital and founded Jordan’s Pediatric Allergy and Immunology Fellowship Program. He also served at Hamad Medical Corporation in Doha and currently works at Sheikh Khalifa Medical City in Abu Dhabi.

He is President of the Arab Society of Primary Immunodeficiency for 2024–2026 and is active in several regional and international professional societies. He has authored more than 50 papers and presented over 60 abstracts and presentations nationally and internationally.

Baran Erman

PhD

Associate Professor
Institute of Child Health, Hacettepe University, Ankara, Türkiye

Baran Erman, PhD, is an Associate Professor at the Institute of Child Health, Hacettepe University, Ankara, Türkiye, and the Principal Investigator of the Can Sucak Translational Immunology Research Laboratory. His research focuses on the genetic basis, molecular mechanisms, and precision diagnosis of inborn errors of immunity (IEIs), with particular expertise in next-generation sequencing technologies, including whole-exome sequencing, targeted sequencing, and multi-omics approaches for the identification and characterization of novel disease-causing variants. In 2020, he established the Can Sucak Research Laboratory, one of Türkiye's leading research facilities dedicated to the genetic diagnosis and translational investigation of IEIs. His laboratory integrates advanced genomic technologies with functional immunological studies to understand how genetic defects alter immune system development and function. Alongside genetic investigations, his research aims to define the functional consequences of disease-causing variants on the immune system.

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.

Hasibe Artac

MD

Selcuk University Medical Faculty
Pediatric Immunology and Allergy
Konya, Turkey

Hasibe Artac, M.D., is a professor at Selcuk University in Konya, Turkiye. Dr. Artac’s primary research focus is to define the various clinical, laboratory and immunological characteristics of inborn errors of immunity (IEI) as well as providing training on the management of these diseases accordance with the Global and Local Guidelines.  Her recent efforts identified the genetic findings in patients with suspected IEI and assessed the contribution of next generation seguencing in identifing both IEI-related and mimicking genetic variants.  Dr. Artac is the founder of “The Selcuk University, Faculty of Medicine, Pediatric Immunology and Allergy” Currently, she is the Division Chief of the Pediatric Allergy and Immunology Program at Selcuk University.

Ramsay L Fuleihan

MD

Professor of Pediatrics at NUFSM

Dr. Ramsay Fuleihan, Professor of Pediatrics at Northwestern University, is the Clinical Practice Director in the Division of Allergy and Immunology at Lurie Children’s Hospital of Chicago. He has also held faculty positions at Boston Children’s Hospital/Harvard Medical School, Yale University, Columbia University and as Division Chief of Allergy and Immunology at Sidra Medicine. Dr. Fuleihan earned his MD from the American University of Beirut, Pediatric residency at Duke University and Allergy/Immunology fellowship at Children’s Hospital, Harvard Medical School. His research interest is in the pathogenesis and treatment of primary immunodeficiency diseases. He served on the Board of Directors of the American Board of Allergy and Immunology. He is a fellow of the American Academy of Allergy Asthma and Immunology and the Clinical Immunology Society, member of the European Society for Immunodeficiencies and Society for Pediatric Research. He serves on the Medical Advisory Committee of the Immune Deficiency Foundation.

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.

Hiba Shendi

MBBS, MD, MRCPCH, MSc, FRCPath, CCT

Consultant Immunologist/Allergist SKMC Hospital, UAE
Assistant Professor, College of Medicine and Heath Sciences,
United Arab Emirates University

Dr Hiba Shendi is Consultant Immunologist/Allergist in Shiekh Khalifa Medical City Hospital (SKMC), Abu Dhabi, UAE.  She completed a Clinical MD in Pediatrics and Child Health, Membership of the Royal Pediatrics and Child Health (London), followed by MSc in Immunology of Infectious Diseases, London School of Hygiene and Tropical Medicine and fellowship and higher specialist training in Allergy/Immunology in the UK in 2012.

She worked as Consultant Immunologist/Allergist, Regional Immunology Service, Royal Victoria Hospital, Belfast, UK before joining SEHA hospitals, the largest government hospitals in UAE in 2015, as lead in Allergy and Immunology. She is adjunct assistant professor in the College of Medicine and Health Sciences, UAE University.  She is responsible for the significant expansion of the Pediatric Allergy/Immunology service, now a tertiary referral centre for children as well as adults with Inborn Errors of Immunity and Allergy in the UAE.  She has been very active on raising awareness about Inborn Errors of Immunity and allergic conditions.

She has various publications, national and international conference presentations and is the main author on the first publication on the spectrum of Inborn Errors of Immunity from the UAE.

Azzeddine Tahiat

 Rouiba University Hospital and Algiers University of Health Sciences, Algiers
Algeria

Prof. Azzeddine Tahiat is Associate Professor of Immunology and Head of the Immunology Laboratory within the Department of Medical Biology at Rouiba University Hospital, affiliated with the Algiers University of Health Sciences. With over 20 years of clinical and academic experience, he is a leading figure in the field of inborn errors of immunity (IEI) in Algeria and across the MENA region.

He trained in immunology at the Institut Pasteur of Algeria and earned a PhD in Medical Sciences, focusing on immune dysregulation in IEI. He played a pivotal role in developing specialized laboratory facilities and diagnostic platforms for IEI in Algeria and currently leads immunodiagnostic and translational immunology efforts at Rouiba University Hospital. He also completed a research fellowship at Boston Children’s Hospital and Harvard Medical School and remains actively engaged in international collaborations with leading immunology centers.
An internationally recognized expert in flow cytometry, Prof. Tahiat has contributed to training programs across North Africa, Europe, and Asia. He serves as Regional Editor of the Journal of Human Immunity and reviews for several high-impact journals, including Frontiers in Immunology and the Journal of Clinical Immunology. His research includes over 27 international publications, with notable contributions to autoimmune diseases, as well as the phenotypic and genetic characterization and diagnostic strategies of inborn errors of immunity.

Dr. Mohamed H. Sayegh

Dr. Mohamed H. Sayegh is a leading physician-scientist and academic leader whose career spans medicine, research, and global health strategy. After earning his MD with distinction from AUB in 1984, he trained in Internal Medicine at Cleveland Clinic and completed a fellowship in Renal Medicine and Transplantation Immunobiology at Harvard Medical School, later becoming Professor of Medicine and holding the Grupe-Merrill Endowed Chair. He returned to AUB in 2009 as Dean of the Faculty of Medicine and Executive Vice President of Medicine and Global Strategy, leading the AUBMC 2020 Vision, which raised $230 million and recruited over 200 faculty back to Lebanon. He later helped establish AUB's Global Health Institute, the first of its kind in the MENA region. An internationally recognized transplantation immunobiology expert with over 350 publications and an H-index of 99–116, he has received numerous honors, including the Mustafa Prize. He now serves as Senior Scientific Advisor to the Director at NIAID/NIH, promoting research collaboration across the MENA region.

Waleed Al-Herz

MD

Professor of Pediatrics
Consultant Allergist & Clinical Immunologist
Department of Pediatrics
College of Medicine
Kuwait University, Kuwait

Prof. Waleed Al-Herz is a Professor at the College of Medicine, Kuwait University, and a distinguished clinician-scientist with expertise in clinical immunology, and allergic diseases. He has made significant contributions to clinical research, medical education, and the advancement of immunological sciences in Kuwait and the region with strong international research collaboration.

Prof. Al-Herz’s research focuses on the epidemiology of inborn errors of immunity and mechanisms of various known immunologic diseases and he contributed to the identification of several novel immune diseases.

He is widely recognized for his contributions to patient care, academic leadership, and international collaborations in immunology and related fields through participation in both regional and international committees and conferences.

He has more than 150 publications in peer-reviewed journals about primary immunodeficiencies and allergies and among the top 1% of highly cited researchers for the last several years and received several awards in appreciation of his research activities.

Michel Massaad

Ph.D., M.Sc.

Associate Professor of Immunology
Department of Experimental Pathology, Immunology, and Microbiology
Department of Pediatrics and Adolescent Medicine
Research Center of Excellence in Immunity and Infections, Director
Center for Infectious Disease Research
Scientific Advisor to the Lebanese National Newborn Screening Program for SCID
Medical Year 1 Class teaching Committee, Chaireman

Dr. Massaad is a renowned specialist in the study of Inborn Errors of Immunity (IEI).

He established programs at the Boston Children’s Hospital/Harvard Medical School, and the Faculty of Medicine of the American University of Beirut centered around determining the genetic etiologies of IEI and their functional contribution to disease development. He published more than 80 original articles describing the mechanisms of disease development in IEI.

He also studies the longitudinal T and B adaptive immune response against SARS-CoV-2 infection and vaccination against the virus.

He is also involved in the education of graduate and medical students, and serves on several academic committees for the amelioration of education and healthcare.

Sevgi Keles

MD

Professor of Pediatrics
Necmettin Erbakan University,
Meram Medical Faculty,
Division of Pediatric Allergy and Immunology, Konya, TURKEY

Sevgi Keles is a Professor of Pediatric Allergy and Immunology at Necmettin Erbakan University, Konya, Türkiye. Her main research interests include inborn errors of immunity, particularly DOCK8 deficiency, hyper-IgE syndromes, combined immunodeficiencies, immune dysregulation, and type I interferon immunity in severe COVID-19. Her work focuses on detailed clinical phenotyping, func rlying immune dysfunction. She is actively involved in national and international collaborative studies aiming to improve the diagnosis, treatment, and long-term management of patients with inborn errors of immunity.

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).

Mohamed Barbouche

Department of Microbiology, Immunology and Infectious Diseases
College Medicine and Health Sciences
Arabian Gulf University
Manama, Bahrain

Ridha Barbouche is M.D., Ph.D., Professor of Immunology, he trained at the Pasteur Institute and at Necker Hospital in Paris, he was post-doctoral fellow at Cornell University in New York.

He was the head of the Department of Immunology at the Pasteur Institute of Tunis, University of Tunis, Tunisia, and he recently joined the Arabian Gulf University in Manama, Bahrain. His clinical interests are the investigation of immune-mediated diseases, and his research activity is dedicated to the study of Inborn Errors of Immunity.

He is an external member of the Scientific Board of the International Pasteur Network. He sits as an expert in different international committees of the WHO, the NIAID and the International Union of Immunological Societies.

He produced research work in Immunology, including immune deficiencies and immunity to infections with more than 170 peer-reviewed publications. He was awarded the University of Montreal Research Prize.

Honar Cherif

MD PhD Professor

Senior Consultant Hematologist Chairman of Dept of Hematology & BMT National Center for Cancer Care & Research Hamad Medical Corporation Doha, Qatar

Dr. Honar Cherif is Professor of Hematology with extensive academic and clinical experience. He completed hematology training at Karolinska University Hospital, Stockholm, and earned his PhD focusing on infectious complications in hematologic malignancies. His research interests include infectious complications, vaccination, thrombocytopenia, myelodysplastic syndromes, and acute leukemias. He served as Head of Hematology at Uppsala University Hospital and Associate Professor at Uppsala University. Currently, he is Chairman of Hematology and Bone Marrow Transplantation at Hamad Medical Corporation.

Michael Lenardo

M.D.

Distinguished Fellow
Calico Life Sciences LLC
South San Francisco

Michael Lenardo, M.D., is a Distinguished Fellow at Calico Life Sciences, an Alphabet Inc. subsidiary, where he leads research on aging and age-related diseases. Before joining Calico, he spent 35 years at the National Institute of Allergy and Infectious Diseases (NIAID) as an NIH Distinguished Investigator, Chief of the Molecular Development of the Immune System Section, and Director of the NIAID Clinical Genomics Program. Dr. Lenardo is internationally recognized for pioneering discoveries in immunology, including the genetic basis and treatment of congenital immune disorders such as Autoimmune Lymphoproliferative Syndrome (ALPS), CHAPLE disease, and XMEN disease. He earned his B.A. from Johns Hopkins University and his M.D. from Washington University in St. Louis, followed by training at the University of Iowa and the Whitehead Institute at MIT. He is an elected member of leading scientific academies and was appointed an Officer of the Order of the British Empire (O.B.E.).

Fayhan Alroqi

Allergy immunology and bone marrow transplant consultant
Ministry of National Guard

Dr Fayhan Alroqi, allergy immunology and bone marrow transplant consultant in Ministry of national guard. He is currently a chairman of outpatient and director of immunology research program at king Abdullah international research center. Dr. Alroqi, has had Saudi and Arab board in pediatric with first honor degree. Then he had his clinical allergy and immunology fellowship in Boston children hospital at Harvard medical school. Also, he has another fellowship in bone marrow transplantation from Dana-Farber Cancer Institute at Harvard medical school. Dr Alroqi is currently the head of the allergy immunology division and the immunology research program. He is interested in clinical and basic science research and his area of expertise is immunodeficiency and immune dysregulation.

Serdar Ceylaner

Medical Doctor, Prof. of Medical Geneticist

Prof. Dr. Serdar Ceylaner is a medical doctor and medical geneticist specializing in rare and undiagnosed diseases, with a focus on diagnosis, research, and education. He is founder, partner, and director of Intergen Genetics and Rare Diseases Diagnostic and Research Center and serves in the Department of Medical Genetics at Lokman Hekim University. He is President of the European Union of Medical Specialists Rare and Undiagnosed Diseases Committee, Turkey’s representative to its Medical Genetics section, a member of the Undiagnosed Diseases Network International, Co-Chair of its Low- and Middle-Income Countries Working Group, and a member of Rare Diseases International’s CGN4RD. Formerly President of the Turkish Medical Genetics Association, he founded the Genetics Department at Zekai Tahir Burak Women’s Health and Training Hospital. Over 30 years, his work has addressed rare diseases and medical complications. His academic record includes 250 international publications, one book, 20 book chapters, 500 conference contributions, and participation in 80 scientific projects.

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.

Prof. Khaled Machaca

PhD

Professor of Systems and Computational Biomedicine
Vice Dean of Research, Innovation, and Commercialization

Khaled is Professor of Systems and Computational Biomedicine at Weill Cornell Medicine and serves as the Vice Dean for Research, Innovation, and Commercialization for the Qatar campus (WCMQ). In that capacity he oversees the academic, financial, operational, and compliance aspects of the research effort at WCMQ, which currently encompasses about 25 Labs and 200 researchers. Professor Machaca oversaw the establishment of the administrative and regulatory infrastructure; centralized core laboratories; and faculty recruitment since 2009. He also serves as the designated institutional official for research compliance. He leads and serves on multiple institutional, national, and international committees.
The Machaca Lab focuses on three broad areas of research: 1) Ca2+ signaling under physiological and pathological conditions, with a focus on the role of store-operated Ca2+ entry in multiple organs. 2) The non-genomic progesterone signaling cascade driving oocyte maturation. 3) Personalized medicine treatments for patients with inherited monogenic disorders. Using cellular models to understand disease pathology and support clinicians in rapidly personalizing treatments.
Work from the Machaca Lab has been published in leading biomedical journals and garnered continuous extramural funding from both the National Institute of Health (NIH) and the Qatar Research Development and Innovation (QRDI) Council. Khaled serves on several editorial boards, reviews widely for scientific journals and granting agencies, and has an extensive track record of training students and postdoctoral fellows.

Reem Elfeky

PhD

Paediatric Immunology Consultant
Great Ormond Street Hospital
Honorary Associate Professor- Immunology and cell therapy,
Institute of child health, UCL.

Dr Reem Elefeky is a paediatric immunologist and bone marrow transplant specialist with expertise in cell and gene therapy. She is a consultant in Paediatric Immunology at Great Ormond Street Hospital, London. After graduating from Ain Shams University, Egypt, in 2001, she trained in paediatrics and completed master’s and doctoral degrees in paediatric immunology. She later undertook fellowships in Newcastle and London and earned an MD(Res) from UCL in 2020 following her coordination of a first-in-human trial of genetically modified T cells in haploidentical transplantation. Dr Elefeky has published more than 26 original articles, including work in JACI, Blood, and Science Immunology, and has received poster prizes, travel awards, and the 2019 John Goldman Prize for clinical research. An ESID mentor and active ASID contributor, she supports immunology education across Africa and helps develop transplantation services and training initiatives with ESID, IPOPI, and JMF for clinicians caring for patients with inborn errors of immunity.

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.

Sevgi Bilgiç Eltan

MD

Associate Professor of Pediatrics and Pediatric Allergy & Immunology

Sevgi Bilgiç Eltan, MD, is an Associate Professor of Pediatrics and a specialist in Pediatric Allergy and Immunology at Marmara University Faculty of Medicine, Istanbul, Türkiye. Her clinical and research interests focus on inborn errors of immunity, particularly combined immunodeficiencies, thymic disorders, immune dysregulation, and their clinical and immunological characterization. She is actively involved in the diagnosis and management of patients with primary immunodeficiencies and in translational research aimed at improving understanding of immune defects. She has contributed to national and international scientific studies and publications in pediatric immunology and allergy. She recently completed a research visit at University College London Great Ormond Street Institute of Child Health, where she gained experience in advanced cellular models, including artificial thymic organoid systems, to investigate T-cell development and thymic dysfunction.

Assoc. Prof. Esra Karabiber

MD

Adult Allergy and Clinical Immunology specialist
Marmara University Pendik Training and Research Hospital, Istanbul, Türkiye.

Assoc. Prof. Esra Karabiber, MD, is an Adult Allergy and Clinical Immunology specialist at Marmara University Pendik Training and Research Hospital, Istanbul, Türkiye. She received her medical education and completed her specialty training in Chest Disease and subsequently in Allergy and Clinical Immunology. Her clinical and academic work focuses on adult patients with inborn errors of immunity, hereditary angioedema, primary immunodeficiency disorders, and complex immune-mediated diseases.

In addition to her research activities, she is actively involved in the diagnosis and long-term management of adults with rare immunological disorders and contributes to resident and medical student education. She is committed to translating scientific advances into improved patient care and promoting multidisciplinary collaboration in the field of clinical immunology.

Dr. Karabiber continues to participate in collaborative research projects and international scientific networks, with the aim of advancing knowledge and improving the quality of life of patients living with rare immune disorders.

Maria Pia Cicalese

MD, PhD

Consultant Pediatrician at San Raffaele Scientific Institute, Milan, Italy
Assistant Professor of Pediatrics at the University Vita-Salute San Raffaele of Milan, Italy

Dr Maria Pia Cicalese is a Physician Scientist at the Pediatric Immunohematology Unit in San Raffaele Hospital, Milan and San Raffaele Telethon Institute for Gene Therapy (SR-Tiget). Her roles include Bone Marrow Transplanter, Gene Therapist, Autologous Transplant Coordinator, Quality Manager and Head of Outpatient Clinic. She is an experienced clinical investigator with training in GCP, regulatory aspects and pharmacovigilance, acting as PI or investigator of several interventional and observational clinical trials and interacting with regulatory authorities (i.e. AIFA and EMA).

She was funded as PI from Italian Ministry of Health and European Union.

Her clinical and scientific interests mainly deal with diagnosis and management of patients with Primary Immunodeficiencies (PIDs), new genes causing PIDs, gene therapies for ADA SCID and Wiskott Aldrich Syndrome and long-term safety and efficacy monitoring of gene therapy through registries. She was among the key persons working in the Marketing Approval of the first ex-vivo gene therapy approved in the world, named Strimvelis©, for the treatment of ADA SCID, and she is currently the Responsible Physician for this treatment.

She graduated in Medicine in 2004, specialised in Paediatrics in 2010 and achieved a PhD in Reproduction, Development, and Human Growth in 2015 at the University of Naples Federico II. She is a member of a variety of scientific groups and she is also Assistant Professor of Pediatrics at the University Vita-Salute San Raffaele of Milan.

Since October 2024, she is ESID (European Society for Immunodeficiencies) Clinical Working Party Chair.

Dr. Khalid Fakhro

Chief Research Officer • Research Services
Sidra Medicine, Qatar.

Dr. Khalid Fakhro is the Chief of Research and Chair of the Precision Medicine Program at Sidra Medicine, the largest tertiary care women and children hospital in Qatar. Dr. Fakhro leads the Laboratory of Human Genetics and Genomics, which focuses on bringing emerging genomic technologies from the lab close to the patient’s bedside. Over the past decade, his group has sequenced thousands of genomes from patients and volunteers across the Middle East, leading gene discovery efforts for a wide range of rare disorders, as well as publishing landmark studies on population structure, genome structural variation, and the role of Islamic ethics in genome research. To date, his lab has been awarded competitive grants exceeding $8m to study genome structure and the genetic etiology of rare diseases and Autism, and their discoveries have featured in high-impact journals worldwide. In addition to research and hospital duties, Dr. Fakhro serves multiple leadership roles in Qatar’s growing biomedical ecosystem, including as a Board Member of the Qatar Precision Medicine Institute and Adjunct Professor at both Weill-Cornell Medical College and Hamad Bin Khalifa University, where he teaches and supervises Masters and Ph.D. students in genomics and precision medicine.

Dr. Ibrahim Janahi

Chief Medical Officer, Chair of Medical Education, and the Division Chief of Pulmonology

Prof. Ibrahim Janahi is Chief Medical Officer, Chair of Medical Education, Designated Institutional Officer, and Division Chief of Pulmonology at Sidra Medicine. He leads clinical excellence, patient safety, and high-quality care while overseeing undergraduate, graduate, fellowship, continuing medical education, and professional development programs. His clinical expertise includes interventional pulmonology, genetically based chronic lung diseases, and rare pediatric lung disorders. His research focuses on primary ciliary dyskinesia, pediatric pulmonary hypertension, the genetic basis of lung disease, and non-invasive monitoring of airway inflammation. Before joining Sidra Medicine, he established the pediatric pulmonology section at Hamad Medical Corporation and served as acting director of its pediatric emergency center. He is Professor of Clinical Pediatrics at Weill Cornell Medicine–Qatar, founder and president of the Gulf Society for Pediatric Respirology, a founding member of the Arab Pediatric Pulmonology Association, and an examiner for several regional and international medical boards worldwide.