YANCOSKI, JUDITH; ALMEJÚN, MARÍA BELÉN; ERRA, LORENZO; ZUBIZARRETA, PEDRO; MARTÍN, GUSTAVO; SEMINARIO, GISELA; BEDROZNIK, LILIANA; VILLAREAL, GISELLE; KATSICAS MARIA MARTHA; OLEASTRO, MATÍAS; VILLA, MARIANA

Functional Consequences of IRF2BP2 Variants in Patients with Isolated Immune Dysregulation

LASID meeting 2025

Año: 2025;

MARTÍN, GUSTAVO; SEMINARIO, GISELA; ERRA, LORENZO; GARCÍA, MATÍAS; TEJADA, MARÍA PILAR; LLARENS, AGOSTINA; PEIRANO, LUCIA; TORREGIANI, VICTORIA; MOREIRA, ILEANA; REGAIRAZ, LORENA; YANCOSKI, JUDITH; ALMEJÚN MARÍA BELÉN

Heterozygous IRF2BP2 Variant Associated with Immune Dysregulation and Recurrent Infections

LASID meeting 2025

Año: 2025;

URIARTE, IGNACIO; ERRA, LORENZO; CABANILLAS, DIANA; MOREIRA, ILEANA; YANCOSKI, JUDITH; ASSALI, MARÍA CLAUDIA; ZAIAT, JONATHAN; PRIETO, EMMA; SEMINARIO, GISELA; SCHELLNAST FAURE, ASTRID; GORIS, VERÓNICA; REGAIRAZ, LORENA; BEDROZNIK, LILIANA; ALMEJÚN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

LAURITO, LUIS IGNACIO; ERRA, LORENZO; CABANILLAS, DIANA; ZAIAT JONATHAN; DEL PALACIO, PAULA; YANCOSKI, JUDITH; REGAIRAZ, LORENA; ALMEJUN MARÍA BELÉN; SCHELLNAST FAURE, ASTRID

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

LASID meeting 2025

Año: 2025;

NIEVAS, ELMA; ERRA, LORENZO; ZAIAT, JONATHAN; ALMEJUN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

ROFFÉ, GEORGINA; RIZZO, AGUSTÍN; GORIS, VERÓNICA; PRIETO, EMMA; SANZ, MARIANELA; ZAIAT JONATHAN; ERRA, LORENZO; NIEVAS, MICAELA; BERNASCONI ANDREA; ALMEJÚN, MARÍA BELÉN; PEREYRA, GABRIELA

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

LASID meeting 2025

Año: 2025;

VASQUES, MARÍA GABRIELA; LÓPEZ, ANA LAURA; ERRA, LORENZO; ANGAROLA, ERNESTINA; ZAIAT JONATHAN; LOPEZ MEDUS, M.; GEFFNER, L.; BUYAYISQUI; M.P.; SAAVEDRA, J.; ALMEJÚN, M.B.; HAEDO,A.; NESSE, A.; GARBOSSA, G.; PAOLINI, MARÍA VIRGINIA

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

LASID meeting 2025

Año: 2025;

VIJODITZ, GUSTAVO; ERRA, LORENZO; ZAIAT, JONATHAN; FERREYRA MUFARREGUE, LEILA ROMINA; LABUR, ROMINA; SORRENTINI, STEFANÍA; LOAYZA REYNOLDS, GRACE BEATRIZ; CAPUTO, MARINA FLAVIA; ALMEJÚN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

DEGRAF, NICOLE; ERRA, LORENZO; BERTONI, MORA; GORIS, VERÓNICA; PRIETO, EMMA; ZAIAT, JONATHAN; OLEASTRO MATÍAS; ALMEJÚN MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

BERTONI, MORA; BRUNELLO, FRANCO GINO; BERNASCONI ANDREA; FLORES DAIANA; LÓPEZ BORZONE, FERNANDO; ZAIAT, JONATHAN; ERRA, LORENZO; RUBULOTTA, EMILIO; GALICCHIO MIGUEL; URIARTE, IGNACIO; ALMEJÚN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

ERRA LORENZO; BERTONI, MORA; DEGRAF, NICOLE; BRUNELLO, FRANCO GINO; GORI, MARÍA SOLEDAD; ZAIAT, JONATHAN; MARTÍ, MARCELO; ALMEJÚN, MARÍA BELÉN

Expanding Genomic Diagnosis in Inborn Errors of Immunity: From National Cohort to a Dominant-Negative IL10RA Variant

4th Franco-Argentine Immunology Congress (FAIC-IV)

Año: 2025;

ERRA LORENZO; GORI, MARÍA SOLEDAD; DEGRAF, NICOLE; BERTONI, MORA; BRUNELLO, FRANCO GINO; BERNASCONI ANDREA; CONTRERAS, MÓNICA; BIASOLI, FLORENCIA; ZAIAT, JONATHAN; DANIELIAN SILVIA; OLEASTRO, MATÍAS; CHACKELEVICIOUS, CARLA; ALMEJÚN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

PEREYRA, GABRIELA; PISTACCIO, LUIS G.; ERRA, LORENZO; ZAIAT, JONATHAN; ALMEJÚN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

PEREYRA, GABRIELA; IAROSSI, MARÍA BELÉN; ERRA, LORENZO; ZAIAT, JONATHAN; ALMEJUN, MARÍA BELÉN

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

LASID meeting 2025

Año: 2025;

DANIEL SOLIS; ERRA, LORENZO; LUNA, LAURA; LÓPEZ BORZONE, FERNANDO; TAMAGNONE, LUCÍA; ZAIAT, JONATHAN; NAL, ALEJANDRA; SCIACALUGA, SILVIA; ALMEJUN, MARÍA BELÉN; GALICCHIO MIGUEL

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

LASID meeting 2025

Año: 2025;

SEMINARIO, GISELA; ERRA, LORENZO; PEIRANO, LUCIA; GORIS, VERÓNICA; CAPUTO, MARINA FLAVIA; FERREYRA MUFARREGUE, LEILA ROMINA; MOREIRA, ILEANA; ZAIAT, JONATHAN; MARTIN, GUSTAVO; PRIETO, EMMA; VIJODITZ, GUSTAVO; ALMEJÚN, MARÍA BELÉN; BEDROZNIK, LILIANA

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

LASID meeting 2025

Año: 2025;

LÓPEZ, ANA LAURA; ERRA, LORENZO; PRIETO, EMMA; GORIS, VERÓNICA; ANGAROLA, ERNESTINA; ZAIAT, JONATHAN; OLEASTRO, MATÍAS; ALMEJUN, MARÍA BELÉN; PAOLINI, MARÍA VIRGINIA

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

LASID meeting 2025

Año: 2025;

BERTONI, MORA; LÓPEZ, ANA LAURA; ERRA, LORENZO; PRIETO, EMMA; DEGRAF, NICOLE; GORIS, VERÓNICA; ANGAROLA, ERNESTINA; ZAIAT, JONATHAN; OLEASTRO, MATÍAS; PAOLINI, MARÍA VIRGINIA; ALMEJÚN MARÍA BELÉN

Novel RHOG mutation (p.G12R) identified in a patient with CVID and combined T- and B-cell dysfunction

4th Franco-Argentine Immunology Congress (FAIC-IV)

Año: 2025;

CABANILLAS, DIANA; ASTRID SCHELLNAST, FAURE; VARGAS, MARÍA FERNANDA; TARQUINI, LUCÍA; DEL PALACIO, PAULA; ALEGRE, MARÍA; ERRA LORENZO; ALMEJUN MARÍA BELÉN; REGAIRAZ, LORENZA

Homozygous RFXANK mutation in argentinean patient with major histocompatibility complex class ii deficiency: a case report

14th Latin American and Caribbean Immunology Congress (ALACI2024). Buenos Aires, Argentina

Año: 2024;

SEMINARIO, GISELA; NUÑEZ, MARÍA VICTORIA; TEJADA, MARÍA PILAR; ERRA LORENZO; GOMEZ RACCIO, ANDREA; GARCÍA, ANA LUZ; BERNACCHIA, AGUSTIN; GAILLARD, MARÍA ISABEL; ALMEJÚN, MARÍA BELÉN; DI GIOVANNI, DANIELA

Heterozygous TCF3 mutation in a patient with agammaglobulinemia

14th Latin American and Caribbean Immunology Congress (ALACI2024). Buenos Aires, Argentina

Año: 2024;

ERRA LORENZO; BRUNELLO, FRANCO GINO; MARTÍ MARCELO; ALMEJUN MARÍA BELÉN

Whole Exome Sequencing in Argentine Patients with Inborn Errors of Immunity: A Comprehensive Study

14th Latin American and Caribbean Immunology Congress (ALACI2024). Buenos Aires, Argentina

Año: 2024;

DEGRAF, NICOLE; ERRA, LORENZO; FLORES DAIANA; BERTONI, MORA; GORIS, VERÓNICA; PRIETO, EMMA; DANIELIAN SILVIA; OLEASTRO, MATÍAS; ALMEJUN MARÍA BELÉN

Functional Characterization of Novel PTPN2 Variants in a Pediatric Patient with Polyautoimmunity and Polyinflammation

14th Latin American and Caribbean Immunology Congress (ALACI2024). Buenos Aires, Argentina

Año: 2024;

FLORES, DAIANA; ERRA, LORENZO; DEGRAF, NICOLE; BERTONI, MORA; BRUNELLO, FRANCO GINO; URIARTE, IGNACIO; GALICCHIO MIGUEL; TAHUIL NATALIA; OLEASTRO, MATÍAS; PRIETO, EMMA; ZAIAT, JONATHAN; KELLER LORENA; MONALDI, GUILLERMO; BERNASCONI ANDREA; DANIELIAN SILVIA; MARTÍ, MARCELO; ALMEJUN MARÍA BELÉN

Functional assessment of novel STAT3 genetic defects in argentinean patients with Inborn Errors of Immunity

14th Latin American and Caribbean Congress of Immunology

Año: 2024;

ROTETA ROCAMORA, JULIA; ANGAROLA, ERNESTINA; LÓPEZ, ANA LAURA; ERRA LORENZO; ALMEJÚN, MARÍA BELÉN; PAOLINI, MARÍA VIRGINIA

Complex phenotype: craniofacial and skeletal anomalies, lymphoproliferation and hypogammaglobulinemia

14th Latin American and Caribbean Immunology Congress (ALACI2024). Buenos Aires, Argentina

Lugar: CABA; Año: 2024;

BEDROZNIK, LILIANA; SEMINARIO, GISELA; PEIRANO, LUCIA; FLORES, DAIANA; ERRA LORENZO; MOREIRA, ILEANA; LLARENS, AGOSTINA; TEJEDA, PILAR; GARCÍA, MATÍAS; MARTÍN, GUSTAVO; BRUNELLO, FRANCO GINO; ZAIAT, JONATHAN; ALMEJUN MARÍA BELÉN

A novel BCL11B mutation underlies heterogeneous clinical presentations in Argentinean twins with immunodeficiency

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

NIEVAS, ELMA; MANNINO, LEONARDO; RANEA, GABRIELA; GIRAUD, ANGELES; ERRA, LORENZO; ALMEJÚN, MARÍA BELÉN

Expanding the spectrum: unraveling novel manifestations of PU.MA in congenital agammaglobulinemia

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Lugar: Marseillle; Año: 2024;

ANGAROLA, ERNESTINA; LÓPEZ, ANA LAURA; ERRA, LORENZO; FLORES, DAIANA; BRUNELLO, FRANCO GINO; ZAIAT, JONATHAN; MARTÍ MARCELO; PAOLINI, MARÍA VIRGINIA; ALMEJUN, MARÍA BELÉN

Complex phenotype: craniofacial and skeletal anomalies, lymphoproliferation and hypogammaglobulinemia

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

URIARTE, IGNACIO; ERRA LORENZO; BRUNELLO, FRANCO GINO; ZAIAT JONATHAN; BERNASCONI ANDREA; MARTÍ, MARCELO ADRIÁN; ALMEJUN MARÍA BELÉN

Novel compound heterozygous CARMIL2 mutations in a patients with warts, autoimmunity and T‐cell dysfunction

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

MOREIRA, ILEANA; ERRA LORENZO; SEMINARIO, GISELA; FLORES, DAIANA; PEIRANO, LUCIA; TEJADA, MARÍA PILAR; GARCÍA, MATÍAS; MARTIN, GUSTAVO; BRUNELLO, FRANCO GINO; BEZRODNIK, LILIANA; ALMEJUN, MARÍA BELÉN

A novel MAGT1 mutation underlies heterogeneous clinical presentations in Argentinean brothers with XMEN disease

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

PAOLINI, MARÍA VIRGINIA; ERRA LORENZO; ANGAROLA, ERNESTINA; FLORES, DAIANA; BRUNELLO, FRANCO GINO; ZAIAT, JONATHAN; LÓPEZ, ANA LAURA; ALMEJÚN, MARÍA BELÉN

A novel compound heterozygous LRBA deficiency in Argentinean patient with a complex phenotype and hypoacusia

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

LÓPEZ, ANA LAURA; ERRA, LORENZO; ANGAROLA, ERNESTINA; FLORES, DAIANA; BRUNELLO, FRANCO GINO; ZAIAT, JONATHAN; PAOLINI, MARÍA VIRGINIA; ALMEJÚN, MARÍA BELÉN

Expanding the clinical spectrum: novel HELIOS mutation in a young woman with a complex phenotype

21st Biennial Meeting of the European Society for Immunodeficiencies (ESID2024)

Año: 2024;

ERRA LORENZO; BRUNELLO, FRANCO GINO; MARTI, MARCELO A.; ALMEJUN MARÍA BELÉN

Inborn errors of immunity: discovery of novel variants and genes involved in their developmen

LASID meeting

Año: 2023;

ERRA LORENZO; BRUNELLO, FRANCO GINO; MARTÍ MARCELO; MARÍA BELÉN ALMEJÚN

Inborn errors of immunity: discovery of novel variants and genes involved in their development

LXXI REUNIÓN CIENTÍFICA ANUAL DE LA SOCIEDAD ARGENTINA DE INMUNOLOGÍA

Año: 2023;

ERRA, LORENZO; URIARTE, IGNACIO; BEZRODNIK, LILIANA; MARÍA B. ALMEJUN

COVID-19 VACCINATION AND NATURAL INFECTION’S RESPONSES IN A COHORT of PATIENTS WITH INBORN ERROR of IMMUNITY FROM ARGENTINA

20 th biennal meeting of the European Society for Immunodeficiencies

Año: 2022;

ERRA LORENZO; URIARTE, IGNACIO; POZNER ROBERTO; ALMEJUN, MARÍA BELÉN

Covid-19 vaccination responses with different vaccine platforms in patients with inborn errors of immunity

LXX REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INMUNOLOGÍA

Año: 2022;

ERRA LORENZO; COLADO ANA; FERNÁNDEZ JULIETA; BRUNELLO FRANCO; GORIS VERÓNICA; VISHNOPOLSKA SEBASTIÁN; MARTINEZ MAYER JULIAN; AVALOS, VANESA; OLEASTRO MATIAS; MARTÍ MARCELO; POZNER ROBERTO; SILVIA DANIELIAN; MARÍA BELÉN ALMEJÚN

NOVEL HETEROZYGOUS MUTATION IN STX11 IN A PEDIATRIC PATIENT WITH EVANS SYNDROME

LXIX REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INMUNOLOGÍA (SAI)

Año: 2021;

ERRA LORENZO; MERCOGLIANO M. FLORENCIA; PRIETO EMMA; GORIS VERÓNICA; KATSICAS MARÍA MARTHA ; PALMA ALEJANDRO M. ; OLEASTRO MATIAS; DANIELIAN SILVIA ; ALMEJUN MARÍA BELÉN

Functional evaluation of novel heterozygous CARD11 mutations associated with diverse immunologic phenotypes in patients with Primary Immunodeficiencies (PID

Latin American Society of ImmunoDeficiencies

Año: 2021;

ERRA, LORENZO; COLADO ANA; FERNÁNDEZ, JULIETA BELÉN; BRUNELLO FRANCO; GORIS VERÓNICA; VISHNOPOLSKA SEBASTIÁN; MARTINEZ MAYER JULIAN; AVALOS, VANESA; VILLA MARIANA; OLEASTRO MATIAS; MARTI MARCELO; POZNER ROBERTO; BORGE, MERCEDES; DANIELIAN SILVIA; ALMEJUN MARÍA BELÉN

Novel heterozygous mutation in stx11 in a pediatric patient with Evans syndrome

Latin American Society of ImmunoDeficiencies

Año: 2021;

ERRA LORENZO; MARÍA FLORENCIA MERCOGLIANO; EMMA PRIETO; VERÓNICA GORIS; MARÍA MARTHA KATSICAS; ALEJANDRO PALMA; MATÍAS OLEASTRO; SILVIA DANIELIAN; MARÍA BELÉN ALMEJÚN

FUNCTIONAL EVALUATION OF NOVEL HETEROZYGOUS CARD11 MUTATIONS ASSOCIATED WITH DIVERSE IMMUNOLOGIC PHENOTYPES IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES (PID)

LXVIII REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INMUNOLOGÍA (SAI)

Año: 2020;