Frontiers in Immunology | Primary Immunodeficiencies

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

667 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

1,069 views

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

1,661 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

1,039 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

1,214 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

1,332 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

1,036 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

1,463 views

Case Report

Published on 18 Nov 2024

Case report: Pediatric patient with severe clinical course of CTLA-4 insufficiency treated with HSCT

in Primary Immunodeficiencies

Katarzyna Drabko
Julia Zarychta
Adrian Kowalczyk
Magdalena Cienkusz

Frontiers in Immunology

doi 10.3389/fimmu.2024.1484467

1,208 views
1 citation

Original Research

Published on 15 Nov 2024

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study

in Primary Immunodeficiencies

Lucía del Pino Molina
Keren Reche Yebra
Yolanda Soto Serrano
Álvaro Clemente Bernal
Carmen L. Avendaño-Monje
J. Gonzalo Ocejo-Vinyals
Rebeca Rodríguez Pena
Eduardo López Granados

Frontiers in Immunology

doi 10.3389/fimmu.2024.1476218

1,438 views

Case Report

Published on 13 Nov 2024

Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

in Primary Immunodeficiencies

Renan Cesar Sbruzzi
Mayara Jorgens Prado
Bibiana Fam
Helena Ashton Prolla
Alessandra Hellwig
Grazielle Motta Rodrigues
Fernanda de-Paris
Mariana Jobim
Osvaldo Artigalás
Yoann Seeleuthner

Frontiers in Immunology

doi 10.3389/fimmu.2024.1472957

1,334 views

Original Research

Published on 11 Nov 2024

CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome

in Primary Immunodeficiencies

Lilian Roland
Chi Huu Nguyen
Katarina Zmajkovicova
Mélanie Khamyath
Maria Kalogeraki
Bérénice Schell
Vanessa Gourhand
Vincent Rondeau
Zeina Abou Nader
Halenya Monticelli

Frontiers in Immunology

doi 10.3389/fimmu.2024.1468823

1,320 views

Original Research

Published on 07 Nov 2024

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.2024.1460990

1,016 views

Original Research

Published on 30 Oct 2024

Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers

in Primary Immunodeficiencies

Arundhati G. Nair
Matilde Leon-Ponte
Vy HD Kim
Gordon Sussman
Götz R.A. Ehrhardt
Eyal Grunebaum

Frontiers in Immunology

doi 10.3389/fimmu.2024.1451232

1,037 views

Case Report

Published on 30 Oct 2024

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report

in Primary Immunodeficiencies

Yu Li
Zhengping Huang
Yun Yan
Feng Guo
Gang Wei
Yue Wang
Yu Xie

Frontiers in Immunology

doi 10.3389/fimmu.2024.1445420

1,100 views

Original Research

Published on 23 Oct 2024

Calculated globulin can be used as a screening test for antibody deficiency in children and adolescents

in Primary Immunodeficiencies

Cristina Frias Sartorelli de Toledo Piza
Carolina Sanchez Aranda
Dirceu Solé
Stephen Jolles
Antonio Condino-Neto

Frontiers in Immunology

doi 10.3389/fimmu.2024.1495564

1,196 views