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Abstracts from the 2025 Clinical Immunology Society Annual Meeting: Immune Deficiency & Dysregulation
CIS Meeting Abstracts 2025
Abstracts from the 2025 Clinical Immunology Society Annual Meeting - PDF
A collection of abstracts from the 2025 Clinical Immunology Society Annual Meeting: Immune Deficiency and Dysregulation, May 1–4, 2025, Philadelphia, Pennsylvania. All abstracts were reviewed and approved by the Clinical Immunology Society Program Committee, which held full responsibility for the abstract selections.
Friday Posters
CIS Meeting Abstracts 2025
Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey
Christin Deal,Anika Jain,Danielle Arnold,Suhag Parikh,Rebecca Marsh,Aleksandra Petrovic,Kanwaldeep Mallhi,Deepak Chellapandian,Eyal Grunebaum,E Liana Falcone,Luis Murguia-Favela,Elizabeth Kang,Harry Malech,Christopher Dvorak,Elie Haddad,Donald Kohn,Linda Griffith,Luigi Notarangelo,Michael A. Pulsipher,Alice Chan,Lauri Burroughs,Mort Cowan,Sung-Yun Pai,Troy Torgerson,Jennifer Puck,Jennifer Heimall,Felicia Morton,Jennifer Leiding
CIS Meeting Abstracts 2025
Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)
V. Rao,Manish J. Butte,Bénédicte Neven,Michaela Semeraro,Yael Gernez,Shanmuganathan Chandrakasan,Hirokazu Kanegane,Takahiro Yasumi,Kazushi Izawa,Alanvin Orpia,Ladan Foruraghi,Lauren Pauls,Lavenda Chirombo Kluczynski,Jason Bradt,Anurag Relan,Gulbu Uzel
CIS Meeting Abstracts 2025
Demographic and Clinical Characteristics of People with Activated Phosphoinositide 3-Kinase Delta Syndrome in the APDS Characterization and Clinical Outcomes Immunologic Registry
Nicholas Hartog,Valeria Duran,Andrew Frick,Kelli Williams,Nicholas Rider,Jason Raasch,Ashley Reiland Sauceda,Brian Hartline
CIS Meeting Abstracts 2025
Autologous Lentiviral Vector LVFOXP3 CD4 T Cells for IPEX Syndrome
Jessie Alexander,Rajni Agarwal,Alaa Alkayed,Akshaya Ramachandran,Katherine Joseph,Julia Ye,Bing Wang,Simon Borna,Yu-Hsuan Kuo,Prachi Wani,Fariba Fazeli,Kunjan Kamdar,Niranchana Vallirajan,Kirstin Dougall,Erica Goodwin,Gopin Saini,Megan Cooper,Isabelle Meyts,Giorgia Bucciol,Leonardo Oliveira Mendonca,Hey Chong,Clinton Dunn,Maria Grazia Roncorolo,Rosa Bacchetta
CIS Meeting Abstracts 2025
Persistent Cytopenia After Cancer Treatment Reveals Underlying Inborn Errors of Immunity in Childhood Cancer Survivors: A Monocentric Italian Case Series
Andrea Beccaria,Michela Di Filippo,Julia Lasagna,Ramona Tallone,Francesca Bagnasco,Alice Grossi,Isabella Ceccherini,Gianluca Dell'orso,Marina Lanciotti,Paola Terranova,Michela Lupia,Lisa Pelanconi,Monica Muraca,Riccardo Haupt,Francesca Fioredda,Carlo Dufour,Maurizio Miano
CIS Meeting Abstracts 2025
CXCR5 as a Therapeutic Target in Autoimmune Diseases: Insights from Sjögren’s Syndrome
Germain Margall Ducos,Sophie Foulon,Benjamin Lassus,Hombline Poullain,Clarisse Monchecourt,Qian Zhang,Roshan Kumar,Pascaline Mary,Jinping Gan,Francisco Adrian,Robert Andtbacka,Liang Schweizer
CIS Meeting Abstracts 2025
Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program
Scott Canna,Whitney Petrosa,Hana Conlon,Adriana LaMonte,Eliza Octavo,Jessica Lee,Hamid Bassiri,Caroline Diorio,Kandace Gollomp,Sarah Henrickson,Judith Kelsen,Michele Lambert,Neil Romberg,Alix Seif,Kathleen Sullivan,David Teachey,Edward Behrens
CIS Meeting Abstracts 2025
Determining the Genetic Drivers of Diffuse Large B Cell Lymphoma 30 Years After Gamma Retroviral Gene Therapy for Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency
Matthew Kan,Beatriz Campo Fernandez,Aoife Doto,Linlin Wang,Frederic Bushman,Jennifer Puck,Donald Kohn
CIS Meeting Abstracts 2025
Preserved CD8+ T Cells, Severe Viral Infections, Profound Immune Dysregulation, and Variable Expressivity in a Kindred with Novel, Homozygous Pathogenic ZAP70 Splice-Site Variants
Jessica Durkee-Shock,Hye Sun Kuehn,Dimana Dimitrova,David Kleiner,Peiying Ye,Elaine Jaffe,Jennifer Kanakry,Colleen Jodarski,Anahita Agharahimi,Justina Pfister,Krista Gangler,Kayla Morgan,Kelly Liepshutz,Morgan Similuk,Magdalena Walkiewicz,Andrea Lisco,Jeffrey Cohen
CIS Meeting Abstracts 2025
Experience with T Cell–Depleted Allogeneic HSCT for Refractory sJIA Associated with Lung Disease
CIS Meeting Abstracts 2025
Genome-Wide Association Study Identifies Novel Variant Associated with Susceptibility to Pediatric Tuberculosis
Christine Anterasian,Kim Dill-McFarland,Josh Ivie,Humphrey Mulenga,Justin Shenje,Simon Mendelsohn,Elisa Nemes,Munyaradzi Musvosvi,Thomas Scriba,Javeed Shah,Mark Hatherill,Tom Hawn
CIS Meeting Abstracts 2025
Addition of Thiotepa to Alemtuzumab, Fludarabine, and Melphalan Reduced-Intensity Conditioning Reduces Secondary Graft Failure in Allogeneic HSCT for Inborn Errors of Immunity
Ruby Khoury,Michael Jordan,Jack Bleesing,Ashish Kumar,Blachy Davila Saldana,Bethany Verkamp,Stella Davies,Rebecca Marsh,Sharat Chandra
CIS Meeting Abstracts 2025
Study of Genome-Wide DNA Methylation Profile in a Large Cohort of Patients with 22q11.2 Deletion Syndrome
Francesco Cecere,Antonio De Rosa,Antonio Ammendola,Elisabetta Toriello,Roberta Romano,Emilia Cirillo,Federica Pulvirenti,Bekim Sadikovic,Giuseppe Merla,Claudio Pignata,Giuliana Giardino
CIS Meeting Abstracts 2025
Distinctive Genome-Wide DNA Methylation Profiling in a Cohort of Patients with Known Pathogenic STAT1 Gain-of-Function Variants
Francesco Cecere,Antonio De Rosa,Antonio Ammendola,Elisabetta Toriello,Roberta Romano,Gianluca Lagnese,Francesco Cinetto,Davide Firinu,Laura Dotta,Maria Carrabba,Raffaele Badolato,Giuseppe Spadaro,Claudio Pignata,Giuseppe Merla,Giuliana Giardino
CIS Meeting Abstracts 2025
Genome-Wide DNA Methylation Profiling Led to the Identification of a Novel ZNF699 Mutation in a Patient with DEGCAGS Syndrome and Severe B Cell Depletion
Giuliana Giardino,Roberta Romano,Gabriella Maria Squeo,Antonio De Rosa,Antonio Ammendola,Elisabetta Toriello,Giorgia gemma,Mariateresa Cantelli,Emilia Cirillo,Vincenzo Nigro,Claudio Pignata,Giuseppe Merla
CIS Meeting Abstracts 2025
Perforin-Deficient Hemophagocytic Lymphohistiocytosis (HLH) Presenting as Recurrent Shock in a Previously Healthy 13-Year-Old Girl
Alexandra Grier,Whitney Petrosa,Hana Conlon,Elisa Ochfeld,Soma Jyonouchi,Kaitlin Devine,Susan McClory,Scott Canna,Neil Romberg,Alix Seif,Edward Behrens
CIS Meeting Abstracts 2025
Clinical Outcome and Quality of Life in Patients with ARPC1B Deficiency Managed Conservatively or with Allogeneic Hematopoietic Stem Cell Transplantation
Enrico Drago,Stefano Giardino,Bénédicte Neven,Michael Albert,Damiano Lemmi,Agathe Escudier,Gianluca Dell'orso,Juliana Fernandes,Leonardo Oliveira Mendonca,Sujal Ghosh,Ansgar Schulz,Luis Fernández-Pereira,Deniz Çağdaş,Hamid Ahanchian,Rana Tafrishi,Raed Alzyoud,Vedat Uygun,Luis Murguia-Favela,Marco Gattorno,Maura Faraci,Stefano Volpi
CIS Meeting Abstracts 2025
Long-Term Viral Presence in Monocytes Correlates with Dysregulation of Innate Immunity in Patients with SARS-CoV-2–Related Multisystem Inflammatory Syndrome in Children
Enrico Drago,Ignazia Prigione,Arinna Bertoni,Federica Penco,Martina Bartolucci,Genny Del Zotto,Paola Bocca,Serena Palmeri,Sara Signa,Paolo Uva,Davide Cangelosi,Riccardo Papa,Andrea Petretto,Lorenz Thurner,Roberta Caorsi,Marco Gattorno,Stefano Volpi
CIS Meeting Abstracts 2025
Newborn Screening for Inborn Errors of Immunity via Whole-Genome Sequencing: A Pilot Study
Ramsay Fuleihan,Manar Abdalgani,Olatundun Williams,Carrie Koval-Burt,Teresa Tarrant,Michael Hershfield,Seema Malhotra,George Vlad,Jordan Orange,Rudolph Leibel,Wendy Chung,Joshua Milner
CIS Meeting Abstracts 2025
Leniolisib Treatment of Childhood-Onset Lupus Nephritis in Activated PI3K-Delta Syndrome Illustrates Precision Medicine in Pediatric Autoimmunity
Jonathan Lim,Mansooreh Ahmadian,Hongyu Du,Christian Rickert,Kimberly Jordan,Tusharkanti Ghosh,Fuyong Xing,Clara Lin,Melisha Hanna,Nicholas Willard,Vijaya Knight,Jennifer Cooper,Jason P. Weinman,Debashis Ghosh,Elena Hsieh
CIS Meeting Abstracts 2025
FOXN1 Deficiency Associated to Severe Viral Infections and Anti–IFN-α/-ω Neutralizing Antibodies
Daniela Garcia-Vargas,Arturo Gutiérrez-Guerrero,Lizbeth Blancas-Galicia,Sara Elva Espinosa-Padilla,Marco Antonio Yamazaki-Nakashimada,Selma Cecilia Scheffler Mendoza,Melissa Espinosa-Navarro
CIS Meeting Abstracts 2025
Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency
Daniela Cleves,Sonia Restrepo-Gualteros,Gustavo Nino,Charlotte Cunningham-Rundles,Ramsay Fuleihan,Kathleen Sullivan,Maria Gutierrez
CIS Meeting Abstracts 2025
Delayed Diagnosis in X-Linked Agammaglobulinemia and Its Relationship to the Occurrence of Mutations in the Bruton Tyrosine Kinase Catalytic Domain
Ruth Cajuste,Paola Suhet,Kranthi Nomula,Serena Shaffren,Daryl Gibson,Marta Toth,Panida Sriaroon,Bob Dudas,Attilla Kumanovics,Jolan Walter
CIS Meeting Abstracts 2025
EBV Susceptibility Associated with RECQL4 Deficiency
Benoît Heid-Picard,Alexandre Degachi,Sarah Winter,Agathe Escudier,Vincent Barlogis,Sujal Ghosh,Isabelle Pellier,Alain Fischer,Frédéric Vely,Benjamin Fournier,Capucine Picard,David Boutboul,Christelle Lenoir,Sylvain Latour
Late-Breaking Abstract
CIS Meeting Abstracts 2025
HMGCS1 Deficiency Is a Novel Immunometabolic Autoinflammatory Disease with Progressive Myositis
Ivona Aksentijevich,Dhanya Lakshmi Narayanan,Annemarie Steiner,Shouya Feng,Carl Esperanzate,Iago Pinal-Fernandez,Katja Hrovat,Paul Baker,Gustaf Wigerblad,Mary Maclean,Hongying Wang,Suma Balan,Vaishnavi Badiger,Wenjuan Liu,Sabrina Helmold Hait,William Gahl,Stefania Dell’Orso,Massimo Gadina,Andrew Mammen,Deborah Stone,Daniel Kastner,Mike Rogers,Danica Novacic,Seth Masters
CIS Meeting Abstracts 2025
Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity
Karenna Barton,Natthawan Chaimongkol,Courtney Ahorrio,Krista Gangler,Maria Ploussiou,Kelly Liepshutz,Kayla Morgan,Harry Malech,Ottavia Delmonte,Gulbu Uzel,V. Rao,Steven Holland,Alexandra Freeman,Ivan Fuss,Suk See De Ravin,Christa Zerbe,Jenna Bergerson,Andrea Lisco,Jennifer Kanakry,Dimana Dimitrova,James Kochenderfer,Kevin Camphausen,Alan Wayne,Dan Fowler,Georg Aue,Richard Childs,Minoo Battiwala,Jeffrey Cohen,Stanislav Sosnovtsev,Michael Keller,Kim Green,Jessica Durkee-Shock
CIS Meeting Abstracts 2025
Precision Alemtuzumab Dosing Results in Day 0 Target Range Achievement in 80% of IEI Patients and Minimizes Risks of GVHD, Clinically Significant Mixed Chimerism, and Secondary Graft Failure
Rebecca Marsh,Ruby Khoury,Kana Mizuno,Anhar Hosawi,Caitlin Cottrell,Evelyn Nguyen,Brady Landon,Sharat Chandra,Michael Jordan,Ashish Kumar,Jack Bleesing,Stella Davies,Carol Moore,Parinda Mehta
Friday Lightning Posters
CIS Meeting Abstracts 2025
Two- to Six-Year Clinical Outcomes Prior to Treatment with Cultured Thymus Tissue Implantation in Children with Congenital Athymia
Benjamin Stewart-Bates,Michael Phillips,Elizabeth McCarthy,Samantha Cresoe-Ortiz,Guglielmo Venturi,Geoffrey Hall,Julie Kim-Chang,Paul Martin,John Sleasman
CIS Meeting Abstracts 2025
Unravelling Enigmatic IgE-Expressing B Cells by Studying Patients with Monogenic Atopic Disorders
Saturday Lightning Posters
CIS Meeting Abstracts 2025
Dissecting the Glycolytic Requirements of Human T cells via G6PC3 Deficiency
Xin Zhen,Matthew Stier,Jerab Perez Caraballo,Megan Dobrose,Edgar Alejandro Medina-Torres,Selma Cecilia Scheffler Mendoza,James Connelly,Luis Ignacio Gonzalez-Granado,Diana Andrea Herrera Sánchez,Patricia O’Farrill Romanillos,Kelly Walkovich,Jeffrey Rathmell,Saul O. Lugo-Reyes,Ruben Martinez-Barricarte
CIS Meeting Abstracts 2025
DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions
Alexandra Freeman,Chen Wang,Grace Suh,Layne Oram,Huie Jing,Basak Kayaoglu,Su-Wan Bianca Chan,Annalie Harris,Lindsey Rosen,Sanathanasabapathy Rajasekaran,Amanda Urban,Andrea Lisco,Gulbu Uzel,Dennis Hickstein,Nirali Shah,Sung-Yun Pai,Corina Gonalez,Steven Holland,Heidi Kong,Helen Su
Oral Abstracts
CIS Meeting Abstracts 2025
PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration
Ana Esteve Sole,Seungmae Seo,Pierre Martine,Luis Ignacio Gonzalez-Granado,Colin L Sweeney,Agustin G. Silva,Brigette Boast,Julie E. Niemela,Jennifer L. Stoddart,Leticia Pias,Merce Bolasell,Ana V. Marin,Jose R Regueiro,Laia Alsina,Kalpana Upadhyaya,Katherine Calvo,Kate Brown,David Lopez-Perez,Juan Francisco Quesada,Harry Malech,Cathryn L Haigh,Ettore Apella,Emily Mace,Hye Sun Kuehn,Sergio D Rosenzweig
CIS Meeting Abstracts 2025
Massively Scalable Generation, Discovery, and Clinical (Re)Classification of Inborn Errors of Immunity Using Cutting-Edge Genome Engineering
Zachary Walsh,Chris Frangieh,Clarissa Heck,Sarah Grauman,Jared Pollard,Akul Naik,Lei haley Huang,Ashley Lee,Dusan Bogunovic,Joshua Milner,Benjamin Izar
CIS Meeting Abstracts 2025
Treatment of Autosomal Recessive Interleukin-7 Deficiency with NT-I7 (Efineptakin Alfa), Long-Acting Recombinant Human Interleukin-7: An Expanded Access Protocol
Derek MacMath,Peiying Ye,Amay Shah,Jasmine Mensah,Triscia Martin,Megan Anderson,Andres Zea Vera,Alex Oh,Sara Ferrando Martinez,Klaus Warnatz,Luigi Notarangelo,Jean-Laurent Casanova,Jose Luis Franco,Anne Puel,Ken Natsuga,Andrea Lisco
CIS Meeting Abstracts 2025
Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF
Andrea Mauracher,Samir Sayed,Jose Campos,Peyton Conrey,Montana Knight,Ceire Hay,James Davis,Lucien Turner,Gabriel Adzika,Robert Lindell,Katelyn J McCann,Asako Takanohashi,Alexander Vargas-Hernandez,Adeline Vanderver,Michael Keller,Jennifer Leiding,Lisa R Forbes Satter,Caroline Diorio,Joseph A Baur,Will Bailis,Jenna Bergerson,Steven Holland,Alexandra Freeman,Sarah Henrickson
CIS Meeting Abstracts 2025
Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency
Joshua Tobin,Matthew Du,Changxu Fan,Tony Yao,Birk Evavold,Alexander Paul,Ana Kolicheski,Yongjun Wang,Nermina Saucier,Jennifer Poursine-Laurent,Kristen McDaniels,Rachel Bielecki,Tomoki Kawai,Peggy Kendall,Caroline Horner,Naresha Saligrama,David LaFon,John Kuster,Luigi Notarangelo,Richard James,Stuart Tangye,Ting Wang,Jeffrey Bednarski,Neil Romberg,Ali Ellebedy,Megan Cooper
CIS Meeting Abstracts 2025
Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation
Elizabeth Schmitz,Alexander Paul,Rajarshi Ghosh,Nermina Saucier,Ana Kolicheski,Sammy Risma,Tiphanie Vogel,Eric Allenspach,David Hoytema van Konijnenburg,Craig Platt,Megan Elkins,Jolan Walter,Katie Lewis,Adriana de Jesus,Raphaela Goldbach-Mansky,Jessica Durkee-Shock,Jeffrey Cohen,Irini Sereti,Andrea Lisco,Ottavia Delmonte,Luigi Notarangelo,V. Rao,Morgan Similuk,Steven Holland,Malachi Griffith,Obi Griffith,Magdalena Walkiewicz,Megan Cooper
Saturday Posters
CIS Meeting Abstracts 2025
Distinct Classes of Gain-of-Function KIT Mutations Distinguish Morphologic Phenotypes of Systemic Mastocytosis
Andrew Snow,Maria Leondaridis,Brandon Schornack,Jeremy McMurray,Jeffrey Stinson,Amaya James,Xiaoping Sun,Janet Brunader,Joaquin Villar,Clifton Dalgard,Lydia Hellwig,Tracy George,Eric Pryor,Melody Carter,Irina Maric,Nathan Boggs
CIS Meeting Abstracts 2025
Haploinsufficiency of A20: Investigating Expanded Phenotypes, Immune Dysregulation, and Liver Injury in a Rare Autoinflammatory Syndrome
Sloane Parker,Hongying Wang,Melissa Mizesko,Filiz Seeborg,Timothy Lotze,Ivan Chinn,James Lupski,Ivona Aksentijevich,Daniel Calame,Tiphanie Vogel
CIS Meeting Abstracts 2025
A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course
Serena Shaffren,Phil Mendez,David Potts,Monica Hajirawala,Panida Sriaroon,Constance Bindernagel,Kranthi Nomula,Svetlana Sharapova,John Sleasman,Jolan Walter
CIS Meeting Abstracts 2025
A Gene Therapy Approach for the Treatment of Inborn Errors of Immunity Caused by Mutations in Large Genes
Elisabetta Toriello,Antonio De Rosa,Carmen Rosano,Cosimo Abagnale,Rosa Maritato,Alessia Medugno,Roberta Romano,Emilia Cirillo,Enrico Maria Surace,Claudio Pignata,Giuliana Giardino
CIS Meeting Abstracts 2025
VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement
Gonench Kilich,Erica Schindewolf,Kelly Maurer,Tanaya Jadhav,Tejas Jammihal,Edward Behrens,Kelly Hassey,Adeline Vanderver,Rebecca Ganetzky,Cara Skraban,Ramakrishnan Rajagopalan,Kathleen Sullivan
CIS Meeting Abstracts 2025
Therapeutic Use of Recombinant Interferon-Gamma in Patients with Refractory Disseminated Coccidioidomycosis
Chen Wang,Brenna LaBere,Michell Lozano Chinga,Keith Sacco,Wassim Ballan,James Woodward,Scott Ostdiek,Matthew Smith,Annalie Harris,Lindsey Rosen,Victoria Anderson,Janine Daub,Cindy Palmer,Fariba Donovan,John Galgiani,Alexandra Freeman,Christa Zerbe,Steven Holland
CIS Meeting Abstracts 2025
Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations
Gonench Kilich,Erica Schindewolf,Lauren Lairson,Kelly Maurer,Tanaya Jadhav,Tejas Jammihal,Kelly Hassey,Adeline Vanderver,Rebecca Ganetzky,Cara Skraban,Christopher Breen,Ramakrishnan Rajagopalan,Kathleen Sullivan
CIS Meeting Abstracts 2025
A Case of Post-COVID-19 Neuroinflammation and Demyelination: Highlighting the Role of Elevated IL-18
CIS Meeting Abstracts 2025
The Impact of Immune Dysregulation on Clinical Outcomes in Common Variable Immunodeficiency: A Systematic Literature Review
Rebecca Marsh,G. Michelle Ducasa,Ali Mojebi,His-en Ho,Charlotte Cunningham Rundles,Lisa R Forbes Satter,Joud Hajjar,Elena Hsieh,Kevin Thorneloe,Jocelyn Farmer
CIS Meeting Abstracts 2025
22q11.2 Deletion Syndrome Causes a Sox-9–Mediated Expansion of Chondrocytes Limiting Embryonic Thymus Growth Correctable by Minoxidil
Nicolai van Oers,Pratibha Bhalla,Neha Ahuja,Ashwani Kumar,Chao Xing,Angela Moses,Ashutosh Shukla,Katelyn Boetel,Christian Wysocki,Ondine Cleaver
CIS Meeting Abstracts 2025
Calcium Leaking from the Endoplasmic Reticulum Caused by a Human ITPR3 R2524C Variant Causes Immunodeficiency, Ectodermal Dysplasia, and Charcot-Marie-Tooth Syndrome
Nicolai van Oers,Christian Wysocki,Chao Xing,Angela Moses,Katelyn Boetel,Pratibha Bhalla,Ashutosh Shukla,Ilya Bezprozvanny,Anne Satterthwaite
CIS Meeting Abstracts 2025
Clinical and Genetic Characteristics of Global Cohort of 132 Individuals with Janus Kinase-3 Deficiency
Ekaterina Polyakova,Malgorzata Pac,Nel Dąbrowska-Leonik,Samaneh Delavari,Nima Rezaei,Hassan Abolhassani,Tinatin Tkemaladze,Oleg Kvilividze,Olga Pashchenko,Svetlana Vakhlyarskaya,Irina Kondratenko,Inga Sakovich,Irina Guryanova,Mikhail Belevtsev,Dmitry Tsekhanovich,Svetlana Aleshkevich,Vera Goda,Christoph Geier,Alexander Leiss-Piller,Çiğdem Aydoğmuş,Pınar Gökmirza Özdemir,Al Serdar,Rahim Miller,Ayca Kiykim,Safa Baris,Luigi Notarangelo,Andrew Gennery,Jolan Walter,Svetlana Sharapova
CIS Meeting Abstracts 2025
HLH-like Hypersensitivity Reaction Secondary to Prolonged Piperacillin/Tazobactam: A Case Series
Céleste Martin,Clément Triaille,Philippe Bégin,François Graham,Philippe Ovetchkine,Louis Paradis,Kathryn Samaan,Stéphanie Tremblay,Fabien Touzot,Marie-Paule Morin,Roxane Labrosse
CIS Meeting Abstracts 2025
A Novel Dominant Negative Variant in IL2RG Gene that Failed to Be Corrected by Lentiviral Gene Therapy
Muslima Hussain,Nisha Nagarsheth,Julia Jones,Jack Bleesing,Sharat Chandra,Rebecca Marsh,Colleen Dansereau,Meaghan O'Donnell,Olivia Silva,Bridget Kerwin,Suk See De Ravin,Susan Prockop,David Williams,Sung-Yun Pai
CIS Meeting Abstracts 2025
Every Third Baby with Lymphoma Under 3 Years of Age Has Inborn Error of Immunity
Tatiana Volodashchik,Ekaterina Polyakova,Inga Sakovich,Aleksandra Kupchinskaya,Alexandra Romantsova,Mikhail Belevtsev,Alina Sojka,Irma Yemialyanava,Marina Horbach,Dmitry Kochubinski,Svetlana Charniayskaja,Taisia Mikhaleuskaya,Luigi Notarangelo,Jolan Walter,Olga Aleinikova,Svetlana Sharapova
CIS Meeting Abstracts 2025
Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG
Kellie Larsen,David Potts,Marta Toth,Joseph Dasso,Michelle Altrich,Maurice O'Gorman,Caleb Cornaby,Kevin Andresen,Manish J. Butte,Timothy Thauland,Brant Ward,Laura Poskitt,Karlla Brigatti,Joelle Williamson Clark,James Verbsky,Svetlana Sharapova,Kristian Csomos,Luigi Notarangelo,Kevin Strauss,Jolan Walter,Paola Suhet
CIS Meeting Abstracts 2025
JAK3 Gain-of-Function in a Young Adult with Chronic Epstein–Barr Virus Infection and Liver NK Cell Lymphoma
CIS Meeting Abstracts 2025
Early Detection of Immune-Dysregulation Predicts a Better Response to Immunosuppressive Treatment in Chronic Immune Thrombocytopenia
Maurizio Miano,Gianluca Dell'orso,Erica Del Bò,Maria Carla Giarratana,Luca Arcuri,Francesca Bagnasco,Alice Grossi,Marina Lanciotti,Paola Terranova,Carlo Dufour,Francesca Fioredda,Elena Palmisani
Virtual Posters
CIS Meeting Abstracts 2025
Clinical and immunological Characteristics of 10 X-linked Chronic Granulomatous Disease Female Carriers
Inga Sakovich,Svetlana Aleshkevich,Svetlana Vakhlyarskaya,Olga Pashchenko,Aleksandra Kupchinskaya,Mikhail Belevtsev,Evgeny Frolov,Tatiana Latysheva,Nikolay Nazarov,Tatiana Nekrasova,Naila Setdikova,Elena Latysheva,Irina Kondratenko,Jolan Walter,Svetlana Sharapova
CIS Meeting Abstracts 2025
Expanding the Landscape of Inborn Errors of Immunity in Hematological Disorders: A Prospective Study on Hidden IEI and IEI Phenocopies
Filippo Consonni,Tommaso Montecchi,Annalisa Tondo,Frédéric Rieux-Laucat,Pere Soler-Palacín,Jacques Gabriel Riviere,Elie Haddad,Vincent-Philippe Lavallée,Maria Teresa Voso,Enrico Attardi,Qiang Pan Hammarström,Donatella Capone,Eleonora Gambineri
CIS Meeting Abstracts 2025
Genetic Characterization of a Cohort of Patients with Suspected Inborn Error of Immunity in Follow-Up at a Single Center
Roberta Romano,Laura Grilli,Francesca Cillo,Marika Comegna,Giancarlo Blasio,Elisabetta Toriello,Antonio De Rosa,Emilia Cirillo,Nigro Vincenzo,Giuseppe Castaldo,Claudio Pignata,Giuliana Giardino
CIS Meeting Abstracts 2025
Quantitative Analysis of TREC and KREC Molecules in Patients with Acute Lymphoblastic Leukemia at the Stage of Maintenance Therapy
Ekaterina Polyakova,Tatyana Shman,Yulia Mareika,Dmitry Tsekhanovich,Iryna Pakhomava,Irina Guryanova,Tatiana Volodashchik,Krystina Veratsennik,Mikhail Belevtsev,Anzhelika Solntsava
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