Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 03 Nov 2022

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience

in Primary Immunodeficiencies

Luciano Urdinez
Lorenzo Erra
Alejandro M. Palma
María F. Mercogliano
Julieta Belén Fernandez
Emma Prieto
Verónica Goris
Andrea Bernasconi
Marianela Sanz
Mariana Villa

Frontiers in Immunology

doi 10.3389/fimmu.2022.1020927

6,605 views
19 citations

Original Research

Published on 02 Nov 2022

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

in Primary Immunodeficiencies

Máté Krausz
Noriko Mitsuiki
Valeria Falcone
Johanna Komp
Sara Posadas-Cantera
Hanns-Martin Lorenz
Jiri Litzman
Daniel Wolff
Maria Kanariou
Anita Heinkele

Frontiers in Immunology

doi 10.3389/fimmu.2022.1011646

3,521 views
4 citations

Original Research

Published on 28 Oct 2022

Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

in Primary Immunodeficiencies

Marta Dafne Cabañero-Navalon
Victor Garcia-Bustos
Maria Nuñez-Beltran
Pascual Císcar Fernández
Lourdes Mateu
Xavier Solanich
Juan Luis Carrillo-Linares
Ángel Robles-Marhuenda
Francesc Puchades-Gimeno
Ana Pelaez Ballesta

Frontiers in Immunology

doi 10.3389/fimmu.2022.1033666

4,886 views
20 citations

Original Research

Published on 25 Oct 2022

Comparison of pulmonary lesions using lung ultrasound and high-resolution computed tomography in adult patients with primary humoral immunodeficiencies

in Primary Immunodeficiencies

Marcin Ziętkiewicz
Natalia Buda
Ewa Więsik-Szewczyk
Maciej Piskunowicz
Dominika Grzegowska
Karina Jahnz-Różyk
Zbigniew Zdrojewski

Frontiers in Immunology

doi 10.3389/fimmu.2022.1031258

2,787 views
2 citations

Case Report

Published on 24 Oct 2022

Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I

in Primary Immunodeficiencies

Motoi Yamashita
Shiori Eguchi
Dan Tomomasa
Takahiro Kamiya
Daiki Niizato
Noriko Mitsuiki
Takeshi Isoda
Hanako Funakoshi
Yuki Mizuno
Kentaro Okamoto

Frontiers in Immunology

doi 10.3389/fimmu.2022.1020362

3,347 views
4 citations

Case Report

Published on 21 Oct 2022

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

in Primary Immunodeficiencies

Tina Trachsel
Seraina Prader
Katharina Steindl
Jana Pachlopnik Schmid

Frontiers in Immunology

doi 10.3389/fimmu.2022.867206

2,880 views
2 citations

Original Research

Published on 20 Oct 2022

Liver disease accompanied by enteropathy in common variable immunodeficiency: Common pathophysiological mechanisms

in Primary Immunodeficiencies

Fabiana Mascarenhas Souza Lima
Myrthes Toledo-Barros
Venâncio Avancini Ferreira Alves
Maria Irma Seixas Duarte
Cleusa Takakura
Carlos Felipe Bernardes-Silva
Ana Karolina Barreto Berselli Marinho
Octavio Grecco
Jorge Kalil
Cristina Maria Kokron

Frontiers in Immunology

doi 10.3389/fimmu.2022.933463

5,046 views
15 citations

Case Report

Published on 19 Oct 2022

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation

in Primary Immunodeficiencies

Nel Dabrowska-Leonik
Agata Karolina Pastorczak
Katarzyna Bąbol-Pokora
Katarzyna Bernat-Sitarz
Barbara Piątosa
Edyta Heropolitańska-Pliszka
Magdalena M. Kacprzak
Krzysztof Kalwak
Katarzyna Gul
Mirjam van der Burg

Frontiers in Immunology

doi 10.3389/fimmu.2022.1033338

4,132 views
6 citations

Original Research

Published on 18 Oct 2022

T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent

in Primary Immunodeficiencies

Ana V. Marin
Anaïs Jiménez-Reinoso
Marina S. Mazariegos
Elena Román-Ortiz
José R. Regueiro

Frontiers in Immunology

doi 10.3389/fimmu.2022.979722

3,130 views
5 citations

Original Research

Published on 06 Oct 2022

Coronavirus disease 2019 vaccination uptake and hesitancy among Polish patients with inborn errors of immunity, autoinflammatory syndromes, and rheumatic diseases: A multicenter survey

in Primary Immunodeficiencies

Ewa Więsik-Szewczyk
Marcin Ziętkiewicz
Agata Będzichowska
Katarzyna Napiórkowska-Baran
Aleksandra Matyja-Bednarczyk
Anna Felis-Giemza
Karina Jahnz-Różyk

Frontiers in Immunology

doi 10.3389/fimmu.2022.1010899

3,199 views
5 citations

Original Research

Published on 06 Oct 2022

Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency

in Primary Immunodeficiencies

Pauline van Schouwenburg
Susanne Unger
Kathryn J. Payne
Fabian M. P. Kaiser
Ingrid Pico-Knijnenburg
Jens Pfeiffer
Oliver Hausmann
David Friedmann
Michelle Erbel
Maximilian Seidl

Frontiers in Immunology

doi 10.3389/fimmu.2022.959002

3,550 views
7 citations

Original Research

Published on 03 Oct 2022

Natural killer cell-related prognosis signature characterizes immune landscape and predicts prognosis of HNSCC

in Primary Immunodeficiencies

Hao Chi
Xixi Xie
Yingjie Yan
Gaoge Peng
Dorothee Franziska Strohmer
Guichuan Lai
Songyun Zhao
Zhijia Xia
Gang Tian

Frontiers in Immunology

doi 10.3389/fimmu.2022.1018685

16,022 views
104 citations

Case Report

Published on 03 Oct 2022

Case report: Ruxolitinib as first-line therapy for secondary hemophagocytic lymphohistiocytosis in patients with AIDS

in Primary Immunodeficiencies

Xiang Liu
Xueling Zhu
Xiaotang Zhou
Yirui Xie
Dairong Xiang
Zhikai Wan
Ying Huang
Biao Zhu

Frontiers in Immunology

doi 10.3389/fimmu.2022.1012643

3,781 views
7 citations

Mini Review

Published on 29 Sep 2022

Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease

in Primary Immunodeficiencies

Jodie Deborah Ouahed

Frontiers in Immunology

doi 10.3389/fimmu.2022.1026511

5,308 views
7 citations

Original Research

Published on 27 Sep 2022

Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility

in Primary Immunodeficiencies

Daniela Olivia Lopez-Rivera
Lina Maria Castano-Jaramillo
Marco Antonio Yamazaki-Nakashimada
Rosa María Nideshda Ramirez Uribe
Celso Tomás Corcuera Delgado
Karen R. Ignorosa-Arellano
Edgar Alejandro Medina-Torres
Laura Berrón Ruiz
Sara Elva Espinosa-Padilla
Selma C. Scheffler-Mendoza

Frontiers in Immunology

doi 10.3389/fimmu.2022.959733

5,105 views
4 citations

Case Report

Published on 26 Sep 2022

Case Report: Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation for severe combined immunodeficiency

in Primary Immunodeficiencies

Shuangjun Liu
Feng Huo
Guorui Dai
Jie Wu
Maoquan Qin
Huawei Mao
Quan Wang

Frontiers in Immunology

doi 10.3389/fimmu.2022.960749

4,092 views
12 citations