Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Published on 31 Jan 2025

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2

in Primary Immunodeficiencies

Yan Long
Chenghan Wang
Jie Xiao
Yunhua Huang
Xiaoting Ling
Chaoyu Huang
Ying Chen
Jiaqi Luo
Rongheng Tang
Faquan Lin

Frontiers in Immunology

doi 10.3389/fimmu.2025.1517417

Case Report

Published on 31 Jan 2025

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

in Primary Immunodeficiencies

Anna Roppelt
Ulyana Markina
Irina Beloglazova
Vasily Parshin
Dmitry Kanner
Dmitry Pershin
Mariia Fadeeva
Elena Raykina
Maxim Aleksenko
Alexander Karaulov

Frontiers in Immunology

doi 10.3389/fimmu.2024.1523256

Review

Accepted on 29 Jan 2025

The Genetics of Hyper IgE Syndromes

in Primary Immunodeficiencies

Randa Alyafie
Dinesh Velayutham
Nicholas Van Panhuys
Puthen Veettil Jithesh

Frontiers in Immunology

doi 10.3389/fimmu.2025.1516068

Original Research

Published on 29 Jan 2025

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

in Primary Immunodeficiencies

Laura Miguel Berenguel
Carla Gianelli
Elisabet Matas Pérez
Teresa del Rosal
Ana Méndez Echevarría
Ángel Robles Marhuenda
Marta Feito Rodríguez
Maria Teresa Caballero Molina
Lorena Magallares García
Brenda Sánchez Garrido

Frontiers in Immunology

doi 10.3389/fimmu.2024.1499415

222 views

Original Research

Published on 28 Jan 2025

Definition of clinical immunology around the globe

in Primary Immunodeficiencies

José C. Crispín
Tineke Cantaert
Alberto Pinzon-Charry
Domenico Mavilio
Ahmed Seri
Pierre Miossec

Frontiers in Immunology

doi 10.3389/fimmu.2025.1483391

141 views

Case Report

Published on 28 Jan 2025

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

in Primary Immunodeficiencies

Sophia Trombello
Andrea Jarisch
Andre Willasch
Eva Rettinger
Julia Fekadu-Siebald
Dirk Holzinger
Roland Adelmann
Peter Bader
Shahrzad Bakhtiar

Frontiers in Immunology

doi 10.3389/fimmu.2024.1507494

184 views

Brief Research Report

Published on 23 Jan 2025

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

in Primary Immunodeficiencies

Elisabetta Toriello
Rosa Maritato
Antonio De Rosa
Maria Valeria Esposito
Carla Damiano
Carmen Rosano
Emilia Cirillo
Antonietta Tarallo
Cosimo Abagnale
Francesca Cillo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1517347

158 views

Original Research

Accepted on 22 Jan 2025

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

in Primary Immunodeficiencies

Robert Sertori
Billy Truong
Manoj K Singh
Susan Shinton
Rachael Price
Andrew Sharo
Paulameena Shultes
Uma Sunderam
Sadhna Rana
Rajgopal Srinivasan

Frontiers in Immunology

doi 10.3389/fimmu.2025.1539848

Original Research

Accepted on 22 Jan 2025

Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry

in Primary Immunodeficiencies

Sandra Martínez Mercader
Victor Garcia-Bustos
Pedro Moral Moral
Carmen Martínez Buenaventura
Elisa Escudero Vergara
María Carmen Montaner Bosch
Héctor Balastegui-Martín
Sonia Galindo Maycas
Berta Palací Mur
Marian Escobar Palazón

Frontiers in Immunology

doi 10.3389/fimmu.2025.1532367

Original Research

Published on 22 Jan 2025

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study

in Primary Immunodeficiencies

Huifeng Fan
Zhiyong Yang
Yuhui Wu
Xiulan Lu
Tian Li
Xuyang Lu
Gen Lu
Liming He
Guoping Lu
Li Huang

Frontiers in Immunology

doi 10.3389/fimmu.2025.1492000

212 views

Brief Research Report

Accepted on 21 Jan 2025

De Novo or Inherited: Gonosomal Mosaicism in Hereditary Angioedema due to C1 Inhibitor Deficiency

in Primary Immunodeficiencies

Laura Batlle-Masó
Janire Perurena-Prieto
Laura Viñas-Giménez
Aina Aguiló-Cucurull
Paula Fernández-Álvarez
Johana Gil-Serrano
Mar Guilarte
Roger Colobran

Frontiers in Immunology

doi 10.3389/fimmu.2025.1550380

Original Research

Published on 21 Jan 2025

Piloting an automated query and scoring system to facilitate APDS patient identification from health systems

in Primary Immunodeficiencies

Amy M. FitzPatrick
Aaron T. Chin
Sharon Nirenberg
Charlotte Cunningham-Rundles
Keith Sacco
Jesse Perlmutter
Joseph F. Dasso
Athanasios Tsalatsanis
Jay Maru
Jessica Creech

Frontiers in Immunology

doi 10.3389/fimmu.2024.1508780

564 views

Original Research

Published on 21 Jan 2025

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections

in Primary Immunodeficiencies

Dana Unninayar
Emilia L. Falcone
Hugo Chapdelaine
Donald C. Vinh
Karina A. Top
Beata Derfalvi
Thomas B. Issekutz
Hélène Decaluwe
Anne Pham-Huy
Julia Upton

Frontiers in Immunology

doi 10.3389/fimmu.2024.1501908

613 views

Original Research

Accepted on 20 Jan 2025

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies

in Primary Immunodeficiencies

Alexey A Lagunin
Ekaterina S Porfireva
Anton D Zadorozhny
Anastasia Rudik
Dmitry A Filimonov

Frontiers in Immunology

doi 10.3389/fimmu.2025.1492751

Case Report

Accepted on 20 Jan 2025

Case Report and Literature Review: Clinical Manifestations and Treatment of Human RelA Deficiency

in Primary Immunodeficiencies

Chenghao Wang
Wenjie Wang
Xiaoying Hui
Jia Hou
Qinhua Zhou
Qifan Li
Qi Wu
Qi Ni
Bingbing Wu
Jinqiao Sun

Frontiers in Immunology

doi 10.3389/fimmu.2025.1529654

Original Research

Published on 20 Jan 2025

Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage

in Primary Immunodeficiencies

Pedro Moral Moral
Marta Dafne Cabanero-Navalon
Paula Teresa López-León
Héctor Balastegui-Martín
Sandra Martínez Mercader
Amparo Mir
Victor Garcia-Bustos

Frontiers in Immunology

doi 10.3389/fimmu.2024.1527514

316 views

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Articles

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

The Genetics of Hyper IgE Syndromes

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

Definition of clinical immunology around the globe

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia

Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study

De Novo or Inherited: Gonosomal Mosaicism in Hereditary Angioedema due to C1 Inhibitor Deficiency

Piloting an automated query and scoring system to facilitate APDS patient identification from health systems

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies

Case Report and Literature Review: Clinical Manifestations and Treatment of Human RelA Deficiency

Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage