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Abstracts from the Latin American Society for Immunodeficiencies (LASID) 2025 meeting

LASID Meeting Abstracts 2025

Abstracts from the Latin American Society for Immunodeficiencies 2025 meeting - PDF

A collection of abstracts from the Latin American Society for Immunodeficiencies (LASID) 2025 meeting, October 15–18, 2025, Buenos Aires, Argentina. All abstracts were reviewed and approved by the LASID scientific committee.

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LASID Meeting Abstracts 2025

Patient with Common Variable Immunodeficiency Type 2 Due to a Likely Pathogenic Mutation in the TNFRSF13B Gene, Carrier Mother

Andrés Mauricio Cabrera Lasso,María Claudia Ortega López,Alfonso Suárez Camacho
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LASID Meeting Abstracts 2025

Artificial Intelligence Identification and Recruitment of Undiagnosed IEI Patients

Alexis V. Stephens,Aaron Chin,Rachel Mester,Bogdan Pasanuic,Manish J. Butte
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LASID Meeting Abstracts 2025

From “Congenital Urticaria” to CAPS: An Atypical Presentation Within the NLRP3-AID Spectrum

Andrés Soffia Palma,Elizabeth Muñoz Osores
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LASID Meeting Abstracts 2025

Report on the Latin American Hematopoietic Stem Cell Transplantation in Inborn Errors of Immunity Group’s Activities: Bringing Us Together!

Cristián Sotomayor,Nideshda Ramírez-Uribe,Alberto Alfaro,Alfonso Fernández,Carmen Bonfim
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LASID Meeting Abstracts 2025

When Metabolism Meets Immunity: Inborn Errors of Metabolism Mimicking Primary Immunodeficiencies—A Case Series

L.D. Hernández-Pineda,J.C. Bustamante-Ogando,H. Onuma-Zamayoa,J.A. Gutiérrez-Hernández,S.C. Scheffler-Mendoza,F.E. Rivas-Larrauri,M.I. Espinosa-Navarro,M.A. Yamazaki-Nakashimada
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LASID Meeting Abstracts 2025

Chemotherapy-Induced Severe Immunodeficiency Mimicking Primary Immunodeficiency: A Diagnostic Challenge

Cristhel Puente,Joel Calero
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LASID Meeting Abstracts 2025

Longitudinal Outcomes in Adenosine Deaminase–Deficient SCID With Transplant: Case Series Highlighting Diverse Clinical Outcomes in a Child and Two Adults

Paola Suhet, MD,Zsuzsanna Gaal, MD, PhD,Vivian Herdandez-Tujillo, MD,Andrew Gennery, MD,Maria Pia Cicalese, MD, PhD,Alessandro Aiuti, MD, PhD,Jolan E. Walter, MD, PhD
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LASID Meeting Abstracts 2025

A Patient Engagement Council to Support Inclusion and Engagement of the Low German Mennonite Community in Clinical Trial Research and Design

Brenda Turley,Ingrid Nielssen,Jana Cardozo,Trudy Dyck,Tina Meggison,Abbey Dorchak,Nely Penner,Evelina Neufeld,Sara Blatz,Johan Blatz,Anna Bueckert,Hanna Huska,Lavindu Senadheera,Mithili Mudalikge,Nicola Wright
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LASID Meeting Abstracts 2025

Clinical and Genetic Insights into Partial RAG Deficiency in Adults: When to Consider Hematopoietic Stem Cell Transplantation?

R.Z. Miller,A. Vasvari,D.E. Potts,D. Dimitrova,P. Suhet,H. Abolhassani,F. Atschekzei,A. Bulkhi,S. Burns,A. Cochino,M. Butte,O. Fadugba,T. Freiberger,E. Fronkova,C.B. Geier,J. Hernandez,S. Holland,V. Kanderova,E. Kuznetsova,E. Latysheva,T. Milota,D. Moshous,E. Polykova,I. Sakovich,R. Sargur,A. Sediva,S. Savic,C. Speckmann,J. De Villartay,B. Ward,K. Warnatz,J.A. Kanakry,E.C. Morris,M.H. Albert,D. Buchbinder,L. Mendonça,S. Baris,A. Petrov,C. Kokron,Kevin A. Strauss,L.D. Notarangelo,C. Schuetz,S.O. Sharapova,J.E. Walter
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LASID Meeting Abstracts 2025

Clinical Variance in an International Cohort of Families with Dominant-Negative FOXN1 Mutations

Evan Potts,Ezgi Nur Alper,Philip Mendez,Serena Shaffren,Paola Suhet,Emily Ammon,Marita Bosticardo,Christian Wysocki,Nicolai Van Oers,John Sleasman,Marco Yamazaki-Nakashimada,Safa Baris,Svetlana Sharapova,Luigi Notarangelo,Austen Worth,Alexandra Kreins,Jolan Walter
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LASID Meeting Abstracts 2025

Mosaicism in IL2RG in an Adult With Combined Immunodeficiency: A Case Report

C.M. Chackelevicius,D. Palmero,L. Castro Zorrilla
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LASID Meeting Abstracts 2025

Effective Management of Type III Hereditary Angioedema with Lanadelumab: A Case Report

C.M. Chackelevicius,J.C. Abuin
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LASID Meeting Abstracts 2025

Dominant-Negative Ikaros: First Reported Case Associated with Adverse Reaction to Bacillus Calmette–Guérin Vaccination

Alexia Moreno Silvestre,Adriana Sánchez-Ramírez,Rosa María Cortés-Grimaldo,Héctor Hugo Campos-Téllez,Ana Pola Macías-Robles,Marlén Barreto-Alcalá,Cristhian Ivan Orozco-Martínez,Beetsi Chávez-Morales
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LASID Meeting Abstracts 2025

Roifman Syndrome: A Gene Within a Gene—First Report in Latin America

Ernesto César Borge Romero,José Alonso Gutiérrez,Emmanuel Arce,Miguel Rodríguez Morales
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LASID Meeting Abstracts 2025

When ITP Isn’t Just ITP: A Case of SOCS1 Haploinsufficiency with Bone Marrow Hypocellularity in a Pediatric Patient

Astrid Schellnast Faure,Diana Cabanillas,Claudia Ruiz,Judith Yancoski,Belen Almejun,Lorena Regairaz
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LASID Meeting Abstracts 2025

A Novel Variant in the NCF2 Gene Causing Autosomal Recessive Chronic Granulomatous Disease: Report of Two Unrelated Paraguayan Families

Diana Sanabria,Celia Martínez de Cuéllar,Ana Ayala,Lady Franco,Sara Benegas,Valerie Joly,Ana Godoy
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LASID Meeting Abstracts 2025

Description of Invasive Aspergillosis in Mexican Patients with Chronic Granulomatous Disease

Tiareth Cova-Guzmán,Deborah Palacios Reyes,Carla M. Román-Montes,Marco Antonio Yamazaki-Nakashimada,Aidé Tamara Staines Boone,Luis Silva-Goytia,María de la Luz García-Cruz,Héctor Gómez-Tello,Uriel Pérez-Blanco,Nancy Jiménez-Polvo,Estefany Mamani Velasquez,Nideshda Ramírez Uribe,Isabel Medina Vera,Sara Espinosa Padilla,Lizbeth Blancas-Galicia
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LASID Meeting Abstracts 2025

De Novo RHOG Variant in a Patient with Combined Immunodeficiency and Extensive Viral Infections: A Potential New Disease Mechanism

Ana Laura Lopez,Lorenzo Erra,Emma Prieto,Verónica Goris,Ernestina Angarola,Jonathan Zaiat,Matías Oleastro,María Belén Almejun,María Virginia Paolini
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LASID Meeting Abstracts 2025

RNASEH2B at the Crossroads: From Aicardi–Goutières Syndrome to Monogenic Lupus

M.P. Tejada,G. Martin,V. Torregiani,I. Moreira,G. Seminario,A. Llarens,L. Peirano,M. Garcia,J. Yancoski,L. Bezrodnik
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LASID Meeting Abstracts 2025

Canadian Inborn Errors of Immunity National Registry (CIEINR): A High-Quality Standardized Patient Data Platform to Support Patient Advocacy and Immune Deficiency Research

Tatiana Kalashnikova,Adam S.L. Graefe,Taylor Mattinson,Eyal Grunebaum,Sneha Suresh,Bruce Ritchie,Juthaporn Cowan,Tamar Rubin,Luis Murguía-Favela,Alyssa Arger,Jennifer Grossman,Hugo Chapdelaine,Catherine Biggs,Rae Brager,Ashley V. Geerlinks,Whitney Goulstone,Sylvia Thun,Peter N. Robinson,Oya Beyan,Brenda Turley,Nicola A.M. Wright,Beata Derfalvi
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LASID Meeting Abstracts 2025

Outcomes and Challenges of Hematopoietic Stem Cell Transplant in CD40L Deficiency

Fahra Smith,Cristian Sotomayor,Magdalena Schelotto,María Pilar Tejada,Danila A. Labonia,Claudio Mosso,Natalia Builes,Diego Medina Valencia,Alexis A. Franco,Manuela Olaya Hernández,Nideshda Ramírez Uribe,Rafaella Muratori
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LASID Meeting Abstracts 2025

Outcomes Following Hematopoietic Cell Transplant in CD3δ SCID Patients in Canada

Tatiana Kalashnikova,Geoffrey D.E. Cuvelier,Gregory M.T. Guilcher,Victor Lewis,Ashish Marwaha,Luis Murguia-Favela,Tamar Rubin,Ashley Chopek,Sneha Suresh,Brenda Turley,Jennifer Leiding,Lauri Burroughs,Linda M. Griffith,Luigi D. Notarangelo,Michael A. Pulsipher,Morton J. Cowan,Rebecca Marsh,Sung-Yun Pai,Troy Torgerson,Jennifer M. Puck,Christopher C. Dvorak,Jennifer Heimall,Alice Y. Chan,Elie Haddad,Donald B. Kohn,Nicola A.M. Wright
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LASID Meeting Abstracts 2025

Pulmonary Manifestations in Children with Predominantly Antibody Deficiencies: A Four-Year Cohort from a Referral Center in Bogotá Autores

Jose Ignacio Palencia-Palencia,Camilo Orbes-Guerrero,Tatiana Rodriguez-Noguera,Santiago Moreno-Terreros,Liliana Artunduaga-Mendez,Oscar Ramirez,Milena Villamil-Osorio,Lina Castano-Jaramillo,Natalia Velez-Tirado
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LASID Meeting Abstracts 2025

Genomic Diagnosis of Chronic Granulomatous Disease (CGD) in a Referral Hospital in Southern Brazil

Leonardo Martinello da Rosa,Martha Braun da Rosa,Mariana de Sampaio Leite Jobim Wilson,Ida Vanessa Doederlein Schwartz,Fernanda Sperb-Ludwig
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LASID Meeting Abstracts 2025

Clinical Picture of Post-Hematopoietic Cell Transplantation for Inborn Errors of Immunity: Single Center Experience

M.P. Tejada,A. Llarens,G. Seminario,I. Moreira,L. Peirano,M. García,G. Martin,N. Fernández Escobar,L. Bezrodnik
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LASID Meeting Abstracts 2025

Clinical Heterogeneity in NFKB1 Deficiency: Report of Two Cases

Beatriz Bayardo Gutierrez,Martin Bedolla Barajas,Antonio Quintero Ramos,Zayra Alejandra Lopez Morales,Saira Marlene Cabrera Arias,Maria Enriqueta Nuñez Nuñez
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LASID Meeting Abstracts 2025

Phenotypic Spectrum of Heterozygous NFKB1 Variants in Four Unrelated Families from Argentina

L. Peirano,G. Martin,G. Seminario,M. Garcia,M. Tejada,I. Moreira,B. Almejún,A. Llarens,L. Bezrodnik
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LASID Meeting Abstracts 2025

Familial Novel NFKB1 Variant Associated with Common Variable Immunodeficiency and Chronic Fungal Infections

Gisela Seminario,Lorenzo Erra,Lucia Peirano,Verónica Goris,Marina Flavia Caputo,Leila Romina Mufarregue Ferreyra,Ileana Moreira,Jonathan Zaiat,Gustavo Martin,Emma Prieto,Gustavo Vijoditz,María Belén Almejun,Liliana Bezrodnik
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LASID Meeting Abstracts 2025

A Lifelong Journey with Common Variable Immunodeficiency: Lessons from a Cohort Spanning Childhood to Old Age

Ernestina Angarola,Ailin Laso,Diana Liberatore
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LASID Meeting Abstracts 2025

What We Have Learnt About Hematopoietic Cell Transplantation in Chronic Granulomatous Disease: A Single Pediatric Center Experience

M.P. Tejada,M.P. Martínez,A. Gomez Raccio,M.G. Gaillard,D. Di Giovanni
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LASID Meeting Abstracts 2025

Novel Dominant-Acting IL2RB Splice Variant in a Patient with Severe Immune Dysregulation

Daniel Solis,Lorenzo Erra,Laura Luna,Fernando López Borzone,Lucia Tamagnone,Jonathan Zaiat,Alejandra Nal,Silvia Sciacaluga,María Belén Almejun,Miguel Galicchio
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LASID Meeting Abstracts 2025

First Case of Chronic Granulomatous Disease Due to NCF1 Mutation Successfully Treated with Pioglitazone

Phan Nguyen Lien Anh,Cao Tran Thu Cuc,Tran Thi Thanh Tam,Nguyen Thi Mai Anh,Nguyen Minh Tuan
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LASID Meeting Abstracts 2025

Hematopoietic Stem Cell Transplantation in ADA-SCID: A Multicenter and Multinational Latin American Report

C. Sotomayor,D. Labonia,N. Ramírez,L.N. Builes,O. Porras,M. Schelotto,F. Smith
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LASID Meeting Abstracts 2025

Novel RELA Mutation Associated with Macrophage Activation Syndrome and Familial Lupus: Linking NF-κB to Monogenic SLE

A. Llarens,L. Peirano,M. Garcia Hernandez,Javier E.V. Gelaltti,S. Arguello,T. Velazco,M. Echeverry,G. Betancur,J. Papagno,A. Abalo,J. Yancovich,Adrian Estevez
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LASID Meeting Abstracts 2025

A Novel Heterozygous OAS1 Variant in a Child with Systemic Inflammation, Epilepsy, and Urticaria: Expanding the Spectrum of Type I Interferonopathies

Luis Ignacio Laurito,Lorenzo Erra,Diana Cabanillas,Jonathan Zaiat,María Paula Del Palacio,Judith Yancoski,Lorena Regairaz,María Belén Almejún,Astrid Schellnast Faure
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LASID Meeting Abstracts 2025

Homozygous ISG15 Deletion in a Patient with Recurrent Encephalitis, BCGitis, and Severe Infections

Gabriela Pereyra,María Belén Iarossi,Lorenzo Erra,Jonathan Zaiat,María Belén Almejun
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LASID Meeting Abstracts 2025

Compound Heterozygous NFATC2 Variants in Adult Patients with Severe Atopy, Immune Dysregulation, and Recurrent Infection

Gabriela Pereyra,Luis G. Pistaccio,Lorenzo Erra,Jonathan Zaiat,María Belén Almejun
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LASID Meeting Abstracts 2025

First Steps with Facilitated Subcutaneous Immunoglobulin (fSCIg) Therapy: A Single Center Experience

I. Moreira,G. Seminario,A. Llarens,L. Peirano,M. Garcia,M. Tejada,G. Martin,L. Bezrodnik
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LASID Meeting Abstracts 2025

Patient with Severe Congenital Neutropenia Associated with ELANE Gene Mutation: c.684C>G, p.Tyr228Ter*

Sabrina Dinorah Sotelo-de Jesús,José Alonso Gutiérrez-Hernández
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LASID Meeting Abstracts 2025

Neurodegenerative Complications in XLA

Ranieri Coelho Salgado,Boris Karanović
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LASID Meeting Abstracts 2025

Variable Clinical Presentation in Complement Deficiency Disorders: Single-Center Experience

Boris Karanović,Marko Barešić,Miroslav Mayer,Branimir Anić,Ágnes Szilágyi,Zoltán Prohászka
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LASID Meeting Abstracts 2025

Molecular and Clinical Profiling of Patients with Suspected Inborn Errors of Immunity at a Rare Disease Center in Southern Brazil: First-Year Preliminary Data

Martina Schroeder Wissmann,Helena Ashton Prolla,Laura Boueri Ticle Lima,Mayara Jorgens Prado,Leonardo Navarrina,Nathan Araujo Cadore,Renan Cesar Sbruzzi,André Lucas Ribeiro,Laurinda Medeiros Ramalho,Ricardo Machado Xavier,Osvaldo Artigalás,Fernanda Sales Luiz Vianna
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LASID Meeting Abstracts 2025

Dominant-Negative IL10RA Variant in a Family with Variable Autoimmune Manifestations: Expanding the Spectrum of IL10R-Associated Immune Dysregulation

Lorenzo Erra,María Soledad Gori,Nicole Degraf,Mora Bertoni,Franco G. Brunello,Andrea Bernasconi,Monica Contreras,Florencia Biasoli,Jonathan Zaiat,Silvia Danielian,Matias Oleastro,Carla Chackelevicious,M. Belén Almejún
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LASID Meeting Abstracts 2025

Functional Characterization of STAT1 and STAT3 Variants in Pediatric Patients with Immune Dysregulation

Mora Bertoni,Franco Gino Brunello,Andrea Bernasconi,Daiana Flores,Fernando López Borzone,Jonathan Zaiat,Lorenzo Erra,Emilio Rubulotta,Miguel Galicchio,Ignacio Leandro Uriarte,María Belén Almejun
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LASID Meeting Abstracts 2025

Novel PTPN2 Variants in Pediatric Patients with Autoimmune and Immunodeficiency Phenotypes: Functional Impact on STAT Signaling

Nicole Degraf,Lorenzo Erra,Mora Bertoni,Verónica Goris,Emma Prieto,Jonathan Zaiat,Matias Oleastro,M. Belén Almejún
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LASID Meeting Abstracts 2025

NADPH Oxidase Subunits by Flow Cytometry in Recessive Chronic Granulomatosis Disease

M.S. Caldirola,A.L. García,D. Comas,A. Gomez Raccio,A. Bernacchia,M.I. Gaillard
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LASID Meeting Abstracts 2025

XMEN: Not Always an EBV-Related Inborn Error of Immunity

M.S. Caldirola,A.L. García,M.P. Martinez,Elena De Mateo,M.V. Nuñez,A. Bernacchia,M.I. Gaillard
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LASID Meeting Abstracts 2025

CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?

L. Ignacio Uriarte,Lorenzo Erra,Diana Cabanillas,Ileana Moreira,Judith Yancoski,Maria Claudia Assali,Jonathan Zaiat,Emma Prieto,Gisela Seminario,Astrid Schellnast Faure,Verónica Goris,Lorena Regairaz,Liliana Bedroznik,María Belén Almejun
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LASID Meeting Abstracts 2025

Monogenic Inflammasomopathies in Pediatric Patients: Insights from a Rheumatology Unit in Argentina

M.M. Katsicas,V. Goris,L. Vasconcellos,E. Puentes,E. Prieto,L. Lancioni,J. Portigliatti,F. Cano,G. Di Giorgio,J. Jancovski,G. Villarreal
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LASID Meeting Abstracts 2025

Homozygous RFX5 Frameshift Variant in a Patient with Syndromic Combined Immunodeficiency and Cancer Predisposition

Gustavo Vijoditz,Lorenzo Erra,Jonathan Zaiat,Leila Romina Ferreyra Mufarregue,Romina Labur,Stefania Sorrentini,Grace Beatriz Loayza Reynolds,Flavia Caputo,María Belén Almejun
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LASID Meeting Abstracts 2025

Atopy Beyond the Skin: CARMIL2 Deficiency

M. García,L. Peirano,A. Llarens,G. Seminario,I. Moreira,G. Martins,P. Tejada,L. Bezrodnik
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LASID Meeting Abstracts 2025

Clinical Report of X-linked Agammaglobulinemia Patients in a Single Center in Argentina

G. Seminario,I. Moreira,G. Martin,M. Garcia,P. Tejada,A. Llarens,L. Peirano,L. Regairaz,L. Bezrodnik
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LASID Meeting Abstracts 2025

Heterozygous IRF2BP2 Variant Associated with Immune Dysregulation and Recurrent Infections

G. Martin,A. Seminario,L. Erra,M. Garcia,P. Tejada,A. Llarens,L. Peirano,V. Torregiani,I. Moreila,L. Regairaz,J. Yancoski,B. Almejum,L. Bezrodnik
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LASID Meeting Abstracts 2025

Digenic Heterozygosity for a Cis Double-Hit in RECQL4 and a FASLG p.Arg198Gln Variant in a Patient with Recurrent Infections, Hypogammaglobulinemia, and Primary Sclerosing Cholangitis

Maria Gabriela Vasquez,Ana Laura Lopez,Lorenzo Erra,Ernestina Angarola,Jonathan Zaiat,María Belén Almejun,María Virginia Paolini
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LASID Meeting Abstracts 2025

Functional Consequences of IRF2BP2 Variants in Patients with Isolated Immune Dysregulation

Judith Yancoski,Belen Almejum,Lorenzo Erra,Pedro Zubizarreta,Gustavo Martin,Gisela Seminario,Liliana Bedroznik,Giselle Villareal,Maria Martha Katsicas,Matias Oleastro,Mariana Villa
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LASID Meeting Abstracts 2025

Improving Diagnosis and Treatment in Inborn Errors of Immunity Patients After the Implementation of Systematized Interventions: A Chilean Single-Center Experience

Carolina Bouso
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LASID Meeting Abstracts 2025

Recurrent Homozygous DOCK8 Microdeletion Suggests a Founder Mutation in Two Unrelated Kaingang Children

Laura Boueri Ticle Lima,Martina Schroeder Wissmann,Helena Ashton Prolla,Mayara Jorgens Prado,Leonardo Navarrina,Nathan Araujo Cadore,Renan Cesar Sbruzzi,Cláudia Fernandes Lorea,Lavinia Schuler-Faccini,Fernanda Sales Luiz Vianna,Osvaldo Artigalás
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LASID Meeting Abstracts 2025

Wiskott–Aldrich Syndrome: Clinical and Immunological Diagnosis Despite Negative Genetic Testing

Carla Gizehl Rodríguez y Rodríguez, MD,Omar Josué Saucedo Ramírez, MD,Edith González, MD
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LASID Meeting Abstracts 2025

Chronicle of a Gene Foretold: A Family Case Report

Daiana Natalí Espantoso,Gustavo Vijoditz,Leila Ferreyra Mufarregue,Veronica Goris,Emma Prieto,Judith Yancoski,Daiana Giardina,María Paula Vazquez,Diego Sanhueza Carrasco,Lisa López Ares,Andrea Bender,Matias Juanes,Flavia Caputo
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LASID Meeting Abstracts 2025

Chronic Granulomatous Disease: A Case Series

E. Inocente,C. Renteria,G. Pérez,M. Lopez,E. Matos
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LASID Meeting Abstracts 2025

Use of Abatacept for Refractory Colitis in an APDS1 Patient: A Case Report

Celina Franco,Florencia D'Angelo,David Fabbrini,Christian Weyersberg,Mónica Contreras,Nilda Gonzalez Roibon,Andrea Bernasconi,Verónica Goris,Emma Prieto,Judith Yancoski,Claudia Merhar,Mariana Villa,Matías Oleastro
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LASID Meeting Abstracts 2025

Tracking Secondary Immune Deficiencies in Pediatric BCP-ALL Patients: A Prospective Study from Single Center

M.P. Martínez,F. Leiva,M.S. Caldirola,V. Natoli,L. Amorossi,M. Soria,C. Ferraro,S. Prada,D. Di Giovanni,M.G. Gaillard
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LASID Meeting Abstracts 2025

Understanding Haploinsufficiency of A20: From Clinical Presentation to Functional Tests

María Giselle Villarreal,Judith Yancoski,Agustín Rizzo,Andrea Bernasconi,Francisco Cano,Georgina Del Georgio,Verónica Goris,Luciana Lancioni,Juan Pablo Portigliatti,Emma Prieto,María Emilia Puentes,Luciana Vasconcellos,María Martha Katsicas
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LASID Meeting Abstracts 2025

XLA in Adults With Severe Gastrointestinal Disease and Opportunistic Coinfection

L. Peirano,A. Llarens,M. Garcia,A. Abalo,A. Estevez
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LASID Meeting Abstracts 2025

Assessment of Immune Reconstitution After Hematopoietic Cell Transplantation in Pediatric Patients with Inborn Errors of Immunity

M.P. Martínez,M.P. Tejada,A. Gomez Raccio,D. Di Giovanni,M.G. Gaillard
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LASID Meeting Abstracts 2025

Retrospective Genetic Molecular Diagnosis for Inborn Errors of Immunity in Patients with Autoimmunity: Experience from a Single Center

Gabriela F. Mora,Rita Valdez,Vanesa Lotersztein
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LASID Meeting Abstracts 2025

MLPA+Ddpcr: Dual Molecular Strategy to Detect Copy Number Variations (CNVs) in Inborn Error of Immunity (IEI) Genes: A Case Study of the WAS Gene

Verónica Goris,Emma Prieto,Mariana Villa,Matías Oleastro,Judith Yancoski
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LASID Meeting Abstracts 2025

A Tale of Two Hits: Compound Heterozygous NFATC2 Variants Unravel a Complex Primary Immunodeficiency with Severe Lung and Gastrointestinal Disease

Juan Carlos Bustamante-Ogando,Rubén Martínez-Barricarte,Edgar Alejandro Medina-Torres,Arturo Gutiérrez-Guerrero,Marco Antonio Yamazaki-Nakashimada,Sara Elva Espinosa-Padilla,Mario Ernesto Cruz-Muñoz,Saul O. Lugo Reyes
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LASID Meeting Abstracts 2025

Late-Onset X-Linked Lymphoproliferative Disease Type 1 (XLP-1): A Mild Phenotype Possibly Explained by Somatic Reversion in SH2D1A

Georgina Roffé,Agustín Rizzo,Verónica Goris,Emma Prieto,Marianela Sanz,Jonathan Zaiat,Lorenzo Erra,Micaela Nievas,Andrea Bernasconi,María Belén Almejun,Gabriela Pereyra
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LASID Meeting Abstracts 2025

Central Nervous System (CNS) Manifestations in Chronic Granolomatous Disease (CGD): Single Pediatric Center Experience

Celina Franco,Florencia D'Angelo,Verónica Goris,Emma Prieto,Judith Yancoski,Claudia Merhar,Mariana Villa,Laura Perez,Matías Oleastro
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LASID Meeting Abstracts 2025

Health Care Utilization and Morbidity in Patients with Genetically Confirmed Primary Immune Regulatory Disorders

Natalia S. Fernández Dávila,Cristina Coll-Ortega,Jamie Jordan,Lisa Forbes-Satter
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LASID Meeting Abstracts 2025

Smoldering Inside: Clinical Presentation and Genetics of Autoinflammatory Disorders: Case Series of 15 Patients

Hiromi Onuma-Zamayoa,Selma Cecilia Scheffler-Mendoza,María del Mar Saez De Ocariz-Gutiérrez,Juan Carlos Bustamante-Ogando,Melissa Ivonne Espinosa-Navarro,Francisco Eduardo Rivas-Larrauri,Marco Antonio Yamazaki-Nakashimada,Edgar Alejandro Medina-Torres,Sara Elva Espinosa-Padilla,Saúl O. Lugo-Reyes
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LASID Meeting Abstracts 2025

Time to Think About Anti-Cytokine Autoantibodies

Estefany G. Mamani Velasquez,Tiareth L. Cova Guzman,Valeria Gómez Toscano,Paulina Cortés Acevedo,Gabriela Barcenas Morales,Sara E. Espinosa Padilla,Lizbeth Blancas Galicia
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LASID Meeting Abstracts 2025

Establishing the Brazilian National Center for Inborn Errors of Immunity and Immunedysregulation (CNE3i): A Multicenter Study

Magda Carneiro-Sampaio,Leonardo Oliveira Mendonça,Ester Sabino,Eloísa Bonfá,Clóvis Almeida,Jorge Kalil,on the behalf of CNE3i collaborative group
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LASID Meeting Abstracts 2025

ERBIN Variant in a Patient with Atopic Dermatitis, Hyper-IgE Phenotype, and Recurrent Respiratory Infections

Elma Nievas,Lorenzo Erra,Jonathan Zaiat,María Belen Almejun
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LASID Meeting Abstracts 2025

Loeys–Dietz Syndrome and Its Connection to Allergies and Hyper-IgE

Diana Elizabeth Ramírez Santos,Maria Eugenia Vargas Camaño,Fernando Lozano Patiño,María Isabel Castrejón Vazquéz
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LASID Meeting Abstracts 2025

The Usefulness of Inborn Errors of Immunity IUIS Categories for Designing Targeted NGS Diagnostic Panels: Experience as an Argentinian Public Referral Center for Molecular Diagnosis

V. Goris,J. Yancoski,E. Prieto,G. Aschettino,C. Alonso,G. Villarreal,M. Villa,J. Rossi,M. Oleastro,M.M. Katsikas
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LASID Meeting Abstracts 2025

Beyond Genetics: Immunological Approach to a Suspected Case of Autoimmune Lymphoproliferative Syndrome (ALPS)

Lucía Castellano,Maximiliano Frías,Verónica González,Mónica Antolín,Victor Claudio Skrie,Débora Belen Velázquez,Laura Del Pino,Luisina Onofrio,Adriana Gruppi,Eva Acosta Rodriguez,María Luz Martín
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LASID Meeting Abstracts 2025

Chronic Granulomatous Disease: A Case Series of Intrafamilial Phenotypic Variability with a New CYBB Variant

Luiza de Mattos,Laire Schidlowski,Ana Paula Zaninelli Diniz Iwamura,Nickolas Piller Wegbecher,Carolina Prando
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LASID Meeting Abstracts 2025

Agammaglobulinemia Associated with a Mutation in the TCF3 Gene with Initial Autoimmune Manifestation

Wendy Callo Zegarra,Rodrigo Corcuera Ciudad,Javier Pérez Rojas
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LASID Meeting Abstracts 2025

A Mild Pediatric Phenotype of PAMI/PAPA Syndrome Associated with PSTPIP1 Variant

Florencia A. D’Angelo,Alejandra Lampugnani,Celina Franco,Estefania Rossetti,Judith Yancoski,Andrea Bernasconi,Agustin Rizzo,Claudia Merhar,Matias Oleastro,Mariana Villa
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LASID Meeting Abstracts 2025

CARD11 Deficiency: Heterogeneity of Phenotypes Related to Autosomal Dominant Inheritance with Loss-of-Function Variant

Laire Schidlowski,Luiza de Mattos,Ana Paula Zaninelli Diniz Iwamura,Nickolas Piller Wegbecher,Carolina Prando
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LASID Meeting Abstracts 2025

Immunodeficiency and Autoimmunity: Immune Dysfunction in Chromosome 18q Deletion Syndrome – A Case Report

Ana Carolina Da Matta Ain,Priscila Florêncio de Oliveira,Luciana dos Santos Lima,Rafaela Fernandes de Camargo
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LASID Meeting Abstracts 2025

Severe Opportunistic Infections Without a Monogenic Defect: Clues to a Phenocopy?

Helena Ashton Prolla,Laura Boueri Ticle Lima,Martina Schroeder Wissmann,Mayara Jorgens Prado,Leonardo Navarrina,Nathan Araujo Cadore,Renan Cesar Sbruzzi,Laurinda Medeiros Ramalho,Paul Bastard,Anne Puel,Jacinta Bustamante,Jean-Laurent Casanova,Osvaldo Artigalás,Fernanda Sales Luiz Vianna
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LASID Meeting Abstracts 2025

Phenotype Compatible with Late-Onset, Nonclassical Combined Immunodeficiency (CDI)

Ingrid Concepcion Acosta Rojas,Javier Pérez Rojas
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LASID Meeting Abstracts 2025

WHIM Syndrome: Long-Term Evolution of an Adult Patient

Maria Gabriela Vasquez Ortuño,Ana Laura Lopez,Diego S. Fernandez Romero
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LASID Meeting Abstracts 2025

Haploidentical Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID): Experience from Latin America

Rafaella Muratori,Gisele Loth,Samantha Nichele,Cristian Sotomayor Fahrenkrog,Paula Catalán Martinez,María Pilar Tejada,Nicolás Fernández Escobar,Carmem Bonfim
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LASID Meeting Abstracts 2025

NEMO Syndrome (EDA-ID): Possible First Reported Case in Peru and South America With a VUS in IKBKG

Ivan Yhersino Panduro Arroyo,Javier Rolando Pérez Rojas
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LASID Meeting Abstracts 2025

APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up

Edwin Pardo-Díaz,Juliana Lores
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LASID Meeting Abstracts 2025

Immune Cytopenia as the Initial Presentation of an X-Linked Lymphoproliferative Syndrome

Ivan Yhersino Panduro Arroyo,Javier Rolando Pérez Rojas
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LASID Meeting Abstracts 2025

Disseminated BCG Infection Revealing Mendelian Susceptibility to Mycobacterial Disease in an Infant with IFNGR1 Deficiency

Abril Montserrat Amaro Leal,Hiromi Onuma Samayoa,Ana María Morales Florez,Lizbeth Blancas Galicia,Jacinta Bustamante
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LASID Meeting Abstracts 2025

Tracking NK and Memory T Cell Dynamics in Children Affected by Multisystem Inflammatory Syndrome (MIS-C)

Natalia González,Camila Astudillo,Yazmín Espinosa,Paz Cerda-Castro,Juan Pablo Araya,Grace Ayleen Silva,Martín Felipe Hernández,Maria Cecilia Poli,Emma Rey-Jurado
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LASID Meeting Abstracts 2025

Unexpected High Frequency of Pneumocystis jirovecii Pneumonia at SCID Diagnosis

Santiago Moreno-Terreros,Oscar Ramirez,Juan Francisco Lopez-Cubillos,Milena Villamil-Osorio,Marcela Estupiñán,Mauricio Chaparro,Laura Niño,Lina Castano-Jaramillo,Natalia Velez-Tirado
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LASID Meeting Abstracts 2025

Characterizing SCID in Bogota: A Single-Center Experience

Santiago Moreno-Terreros,Oscar Ramirez,Juan Francisco Lopez-Cubillos,Milena Villamil-Osorio,Marcela Estupiñán,Mauricio Chaparro,Laura Niño,Lina Castano-Jaramillo,Natalia Velez-Tirado
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LASID Meeting Abstracts 2025

Case of Autoinflammatory Syndrome with Mutation in NLRP1

Esmeralda Nancy Jiménez Polvo,Fernando Javier Sandoval Silva
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LASID Meeting Abstracts 2025

Immunophenotyping in Adult Patients with Common Variable Immunodeficiency

Nicolás Di Biasi,Ricardo D. Lujan Moya,Ana L. López,Ernestina Angarola,Viviana Novoa,Diego S. Fernandez Romero
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LASID Meeting Abstracts 2025

From Genetic Dysregulation to Targeted Therapy: Managing Autoimmunity in Down Syndrome with JAK Inhibitors

Vania María Miranda-Saavedra,Marco Antonio Yamazaki-Nakashimada,Alonso Gutierrez-Hernandez,Francisco Rivas-Larrauri,Selma Sheffler-Mendoza,Melissa Ivonne Espinosa-Navarro,Juan Carlos Bustamante-Ogando
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LASID Meeting Abstracts 2025

22q11.2 Deletion Syndrome and Immune Dysregulation: A Case Report

Rodrigo Corcuera-Ciudad,Wendy Callo-Zegarra,Javier Pérez-Rojas
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LASID Meeting Abstracts 2025

From Prenatal Diagnosis to Transplant Indication: A Case Series on the Variable Immune Phenotypes of Cartilage-Hair Hypoplasia Syndrome

Q.G.M. Campos,R.R.L. Guimarães,P.D.R. Guimarães,L.F. Chammas,L.C.O. Gois,B.L. Akieda,M.G. Pimentel,A. Condino-Neto,D. Sole,C.S. Aranda
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LASID Meeting Abstracts 2025

Immune Chaos in a Child with Takenouchi–Kosaki Syndrome: A Case of Dual Dysregulation and Multisystem Involvement

Q.G.M. Campos,M.G. Pimentel,R.R.L. Guimarães,L.N. Teixeira,J.C. Cabral,P.P. Ogeda,S.N. Eto,A. Condino-Neto,D. Sole,C.S. Aranda
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LASID Meeting Abstracts 2025

An Autoinflammatory Syndrome Caused by PSMB9 Deficiency: The Power of Functional Testing to Guide Therapy

Claudia Merhar,Judith Yancoski,Florencia D'Angelo,Verónica Goris,Emma Prieto,Celina Franco,Laura Perez,Giselle Villarreal,María Martha Katicas,Mariana Villa,Matías Oleastro
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LASID Meeting Abstracts 2025

ORAI1: An Unusual Cause of Combined Immunodeficiency

Natalia Vélez-Tirado,Flor Marcela Estupiñán,Mauricio Chaparro,Laura Niño,Diana Paola Escobar-Serna,Milena Villamil,Juan Francisco López,Lina Castaño-Jaramillo
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LASID Meeting Abstracts 2025

Myelodysplastic Syndrome and Hypogammaglobulinemia Associated with a SAMD9L Mutation and Monosomy 7: A Case Report

L. Riaño Cardozo,L. Caputi,G. Seminario,P. Tejada,G. Schwalb,L. Wittmund,A. Gómez Raccio,D. Di Giovanni
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