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Journal Articles

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

Elma Nievas, Lorenzo Erra, Jonathan Zaiat, María Belen Almejun

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.76.

https://doi.org/10.70962/LASID2025abstract.76

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.44.

https://doi.org/10.70962/LASID2025abstract.44

Published: 22 December 2025

View article titled, Functional Characterization of STAT1 and STAT3 Variants in Pediatric Patients with Immune Dysregulation

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.28.

https://doi.org/10.70962/LASID2025abstract.28

Published: 22 December 2025

View article titled, Familial Novel NFKB1 Variant Associated with Common Variable Immunodeficiency and Chronic Fungal Infections

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.18.

https://doi.org/10.70962/LASID2025abstract.18

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.37.

https://doi.org/10.70962/LASID2025abstract.37

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.31.

https://doi.org/10.70962/LASID2025abstract.31

Published: 22 December 2025

View article titled, Novel Dominant-Acting IL2RB Splice Variant in a Patient with Severe Immune Dysregulation

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.48.

https://doi.org/10.70962/LASID2025abstract.48

Published: 22 December 2025

View article titled, CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.54.

https://doi.org/10.70962/LASID2025abstract.54

Published: 22 December 2025

View article titled, 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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.36.

https://doi.org/10.70962/LASID2025abstract.36

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.35.

https://doi.org/10.70962/LASID2025abstract.35

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.70.

https://doi.org/10.70962/LASID2025abstract.70

Published: 22 December 2025

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

Journal Articles

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

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.50.

https://doi.org/10.70962/LASID2025abstract.50

Published: 22 December 2025

View article titled, Homozygous RFX5 Frameshift Variant in a Patient with Syndromic Combined Immunodeficiency and Cancer Predisposition

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Journal

Article Type

Date

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

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

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

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

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

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

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

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

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

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

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

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

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