Frontiers in Immunology | Primary Immunodeficiencies

Review

Published on 08 Aug 2024

X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review

in Primary Immunodeficiencies

Chunxue Jiang
Yunhan He
Xin Chen
Fei Xia
Feng Shi
Xuewen Xu
Tingting Sun
Kai You

Frontiers in Immunology

doi 10.3389/fimmu.2024.1453046

3,481 views
1 citation

Original Research

Published on 06 Aug 2024

Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia

in Primary Immunodeficiencies

Lea Graafen
Annekathrin Heinze
Nawid Albinger
Emilia Salzmann-Manrique
Franziska Ganß
Sabine Hünecke
Claudia Cappel
Sandra Wölke
Helena Donath
Jordis Trischler

Frontiers in Immunology

doi 10.3389/fimmu.2024.1377955

2,503 views
1 citation

Case Report

Published on 30 Jul 2024

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome

in Primary Immunodeficiencies

Jingyuan Zhang
Yuanbo Kang
Zenan Xia
Yuming Chong
Xiao Long
Min Shen

Frontiers in Immunology

doi 10.3389/fimmu.2024.1412084

1,767 views

Case Report

Published on 24 Jul 2024

Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background

in Primary Immunodeficiencies

Franz-Martin Fink
Reinhard Höpfl
Martina Witsch-Baumgartner
Gabriele Kropshofer
Sabine Martin
Valentin Fink
Maximilian Heeg
Christina Peters
Johannes Zschocke
Oskar A. Haas

Frontiers in Immunology

doi 10.3389/fimmu.2024.1430938

2,838 views

Case Report

Published on 16 Jul 2024

Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature

in Primary Immunodeficiencies

Yoshine Saito
Anupama Kewalramani
Xiao P. Peng
Aimee Magnarelli
Howard M. Lederman

Frontiers in Immunology

doi 10.3389/fimmu.2024.1425289

1,923 views

Original Research

Published on 15 Jul 2024

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1

in Primary Immunodeficiencies

Sagar Bhattad
Somashekara H. Ramakrishna
Ratan Kumar
Joseph M. Choi
Janet G. Markle

Frontiers in Immunology

doi 10.3389/fimmu.2024.1406781

1,646 views
1 citation

Original Research

Published on 12 Jul 2024

Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria

in Primary Immunodeficiencies

Azzeddine Tahiat
Reda Belbouab
Abdelghani Yagoubi
Saliha Hakem
Faiza Fernini
Malika Keddari
Hayet Belhadj
Souad Touri
Samira Aggoune
Jennifer Stoddard

Frontiers in Immunology

doi 10.3389/fimmu.2024.1402038

4,820 views
1 citation

Case Report

Published on 09 Jul 2024

Successfully treated with siltuximab and prednisone in a 7-year-old girl with DOCK8-deficiency presenting as recurrent wart-like lesions: a case report

in Primary Immunodeficiencies

Zhe Sun
Ruoqu Wei
Chaolan Pan
Cheng Ni
Xue Zhang
Wenbin Guan
Ruhong Cheng
Yan Gu
Hong Yu
Kejun He

Frontiers in Immunology

doi 10.3389/fimmu.2024.1414573

1,717 views
1 citation

Mini Review

Published on 08 Jul 2024

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation

in Primary Immunodeficiencies

Katarina Zmajkovicova
Keith Nykamp
Grace Blair
Melis Yilmaz
Jolan E. Walter

Frontiers in Immunology

doi 10.3389/fimmu.2024.1411141

2,944 views
2 citations

Review

Published on 05 Jul 2024

The complex nature of CXCR4 mutations in WHIM syndrome

in Primary Immunodeficiencies

José Miguel Rodríguez-Frade
Luis Ignacio González-Granado
César A. Santiago
Mario Mellado

Frontiers in Immunology

doi 10.3389/fimmu.2024.1406532

3,391 views
1 citation

Review

Published on 04 Jul 2024

Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans

in Primary Immunodeficiencies

Alexandra Christodoulou
Julia Y. Tsai
Nutthakarn Suwankitwat
Andreas Anderson
Brian M. Iritani

Frontiers in Immunology

doi 10.3389/fimmu.2024.1402139

3,359 views
2 citations

Correction

Published on 28 Jun 2024

Corrigendum: Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity

in Primary Immunodeficiencies

Motoko Unoki

Frontiers in Immunology

doi 10.3389/fimmu.2024.1445756

901 views
1 citation

Original Research

Published on 28 Jun 2024

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine

in Primary Immunodeficiencies

Oksana Boyarchuk
Larysa Kostyuchenko
Hayane Akopyan
Anastasiia Bondarenko
Alla Volokha
Anna Hilfanova
Ihor Savchak
Liliia Nazarenko
Nataliia Yarema
Olha Urbas

Frontiers in Immunology

doi 10.3389/fimmu.2024.1428724

2,615 views
2 citations

Original Research

Published on 27 Jun 2024

Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023)

in Primary Immunodeficiencies

Samya Van Coillie
Johan Prévot
Silvia Sánchez-Ramón
David M. Lowe
Michael Borg
Brigitte Autran
Gesmar Segundo
Antonio Pecoraro
Nicolas Garcelon
Cornelis Boersma

Frontiers in Immunology

doi 10.3389/fimmu.2024.1430678

2,897 views
1 citation

Original Research

Published on 26 Jun 2024

A degranulation assay using Vγ9Vδ2 T cells for the rapid diagnosis of familial hemophagocytic syndromes

in Primary Immunodeficiencies

Olivia Jorisch-Mühlebach
Dina Pitts
Raphaela Tinner
Hong Ying Teh
Conrad Roelli
Seraina Prader
Stefano Vavassori
Jana Pachlopnik Schmid

Frontiers in Immunology

doi 10.3389/fimmu.2024.1391967

2,492 views
1 citation

Perspective

Published on 25 Jun 2024

Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia

in Primary Immunodeficiencies

Gaayathri Kumarasamy
Khayrin Khairiz
Wai Leng Chang
Thin Thin Aye
Adli Ali

Frontiers in Immunology

doi 10.3389/fimmu.2024.1400247

3,703 views
5 citations