Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 18 Nov 2022

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity

in Primary Immunodeficiencies

Nora Pernaa
Salla Keskitalo
Iftekhar Chowdhury
Antti Nissinen
Virpi Glumoff
Riikka Keski-Filppula
Juhani Junttila
Kari K. Eklund
Wenny Santaniemi
Sanna Siitonen

Frontiers in Immunology

doi 10.3389/fimmu.2022.819929

5,620 views
5 citations

Original Research

Published on 18 Nov 2022

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features

in Primary Immunodeficiencies

Mutaz Sultan
Mohammad Adawi
Nitzan Kol
Blake McCourt
Ihda Adawi
Liran Baram
Noa Tal
Lael Werner
Atar Lev
Scott B. Snapper

Frontiers in Immunology

doi 10.3389/fimmu.2022.1041315

6,662 views
17 citations

Original Research

Published on 18 Nov 2022

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

in Primary Immunodeficiencies

Laura Batlle-Masó
Marina Garcia-Prat
Alba Parra-Martínez
Clara Franco-Jarava
Aina Aguiló-Cucurull
Pablo Velasco
María Antolín
Jacques G. Rivière
Andrea Martín-Nalda
Pere Soler-Palacín

Frontiers in Immunology

doi 10.3389/fimmu.2022.1014984

3,573 views
2 citations

Mini Review

Published on 17 Nov 2022

In vitro systems to study inborn errors of immunity using human induced pluripotent stem cells

in Primary Immunodeficiencies

Eirini Nikolouli
Janne Reichstein
Gesine Hansen
Nico Lachmann

Frontiers in Immunology

doi 10.3389/fimmu.2022.1024935

2,516 views
2 citations

Case Report

Published on 17 Nov 2022

Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette–Guérin disease and Pneumocystis pneumonia

in Primary Immunodeficiencies

Ying Pan
Hui Pan
Chunan Lian
Beiyan Wu
Jieying Lin
Guang Huang
Binglin Cui

Frontiers in Immunology

doi 10.3389/fimmu.2022.1055607

3,359 views
5 citations

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

5,794 views
18 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

3,154 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

4,427 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

2,396 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

3,010 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

2,551 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

4,537 views
14 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

3,644 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

2,880 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

2,792 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

3,264 views
6 citations