Frontiers in Immunology | Primary Immunodeficiencies

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

1,032 views

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

1,247 views
1 citation

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

1,613 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

1,743 views

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

1,100 views

Correction

Published on 14 Jan 2025

Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

in Primary Immunodeficiencies

Yu Huang
Lu Li
Ran Chen
Lang Yu
Shunkai Zhao
Yanjun Jia
Ying Dou
Zhiyong Zhang
Yunfei An
Xuemei Tang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1544964

572 views

Perspective

Published on 13 Jan 2025

Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment

in Primary Immunodeficiencies

Francesca Conti
Mattia Moratti
Elena Sabattini
Pier Luigi Zinzani

Frontiers in Immunology

doi 10.3389/fimmu.2024.1517543

1,273 views

Case Report

Published on 08 Jan 2025

Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report

in Primary Immunodeficiencies

Azadeh Kiumarsi
Amirarsalan Alaei
Mohsen Nikbakht
Saeed Mohammadi
Mohammad Reza Ostad-Ali
Zahra Rasti
Tahereh Rostami

Frontiers in Immunology

doi 10.3389/fimmu.2024.1475448

1,027 views
1 citation

Case Report

Published on 07 Jan 2025

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis

in Primary Immunodeficiencies

Qin Ying Lim
Daniel Leung
Crystal K. Lam
Xingtian Yang
Kai N. Cheong
Andrew K. H. Yik
Jing Yang
Koon-Wing Chan
Pamela P. W. Lee
Miyuki Tsumura

Frontiers in Immunology

doi 10.3389/fimmu.2024.1504816

898 views

Original Research

Published on 06 Jan 2025

The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency

in Primary Immunodeficiencies

Sara Posadas-Cantera
Noriko Mitsuiki
Florian Emmerich
Virginia Patiño
Hanns-Martin Lorenz
Olaf Neth
Ingunn Dybedal
Kjetil Taskén
Alejandro A. Schäffer
Bodo Grimbacher

Frontiers in Immunology

doi 10.3389/fimmu.2024.1447995

1,295 views
1 citation

Original Research

Published on 24 Dec 2024

PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect

in Primary Immunodeficiencies

Linlin Yang
Barbara Zerbato
Alex Pessina
Luca Brambilla
Virginia Andreani
Stefanie Frey-Jakobs
Manfred Fliegauf
Mohamed-Ridha Barbouche
Qiaoxia Zhang
Ferdinando Chiaradonna

Frontiers in Immunology

doi 10.3389/fimmu.2024.1500381

2,119 views

Case Report

Published on 10 Dec 2024

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia

in Primary Immunodeficiencies

Xin Chen
Chunxue Jiang
Wenliang Song
Tingting Sun
Jingli Yan
Wei Xu
Kai You

Frontiers in Immunology

doi 10.3389/fimmu.2024.1498066

1,264 views

Case Report

Published on 06 Dec 2024

Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report

in Primary Immunodeficiencies

Fabrizio Leone
Alessandra Gori
Bianca Laura Cinicola
Giulia Brindisi
Vittorio Maglione
Caterina Anania
Anna Maria Zicari

Frontiers in Immunology

doi 10.3389/fimmu.2024.1518076

1,613 views

Original Research

Published on 05 Dec 2024

Complications of the Bacillus Calmette-Guerin vaccine as an early warning sign of inborn errors of immunity: a report of 197 patients

in Primary Immunodeficiencies

Mohammad Reza Fazlollahi
Ali Goudarzi
Maryam Nourizadeh
Zahra Alizadeh
Shaghayegh Tajik
Mohsen Badalzadeh
Shokouh Azam Sarafzadeh
Maryam Mahlooji Rad
Zeinab Adab
Leila Moradi

Frontiers in Immunology

doi 10.3389/fimmu.2024.1477499

1,846 views
1 citation

Case Report

Published on 29 Nov 2024

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis

in Primary Immunodeficiencies

Lang Yu
Yulin Li
Wenhui Li
Yishi Zhang
Wenli He
Xuemei Tang
Yunfei An
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2024.1474429

1,255 views

Case Report

Published on 20 Nov 2024

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

in Primary Immunodeficiencies

Shiro Beppu
Takuro Nishikawa
Dan Tomomasa
Atsushi Hijikata
Hiroshi Kasabata
Hideyuki Terazono
Kazuro Ikawa
Tatsuro Nakamura
Shogo Horikawa
Jun Nagahama

Frontiers in Immunology

doi 10.3389/fimmu.2024.1478411

1,738 views