Case Report

Published on 26 Aug 2024

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

in Primary Immunodeficiencies

Halyn Orellana
Jia Yan
Alex Paul
Mari Tokita
Yan Ding
Rajarshi Ghosh
Katie L. Lewis
Joie Davis
Leila Jamal
Colleen Jodarski

Frontiers in Immunology

doi 10.3389/fimmu.2024.1451212

746 views

Original Research

Published on 23 Aug 2024

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review

in Primary Immunodeficiencies

Faranaz Atschekzei
Stephan Traidl
Julia Carlens
Katharina Schütz
Sandra von Hardenberg
Abdulwahab Elsayed
Diana Ernst
Linus Risser
Thea Thiele
Theresa Graalmann

Frontiers in Immunology

doi 10.3389/fimmu.2024.1400348

1,537 views
1 citation

Original Research

Published on 20 Aug 2024

Unraveling the unphosphorylated STAT3–unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome

in Primary Immunodeficiencies

Adil Karim
Rashi Garg
Biman Saikia
Abha Tiwari
Smrity Sahu
Mehak Malhotra
Ranjana W. Minz
Amit Rawat
Surjit Singh
Deepti Suri

Frontiers in Immunology

doi 10.3389/fimmu.2024.1332817

1,240 views

Editorial

Published on 19 Aug 2024

Editorial: Transition care in primary immunodeficiencies

in Primary Immunodeficiencies

Siobhan Oisin Burns
Nizar Mahlaoui

Frontiers in Immunology

doi 10.3389/fimmu.2024.1467284

606 views

Original Research

Published on 19 Aug 2024

MicroRNA dysregulation in ataxia telangiectasia

in Primary Immunodeficiencies

Emilia Cirillo
Antonietta Tarallo
Elisabetta Toriello
Annamaria Carissimo
Giuliana Giardino
Antonio De Rosa
Carla Damiano
Annarosa Soresina
Raffaele Badolato
Rosa Maria Dellepiane

Frontiers in Immunology

doi 10.3389/fimmu.2024.1444130

1,187 views

Original Research

Published on 14 Aug 2024

Immunological characterization of IgG subclass deficiency reveals decreased Tregs and increased circulating costimulatory and regulatory immune checkpoints

in Primary Immunodeficiencies

Per Wågström
Maria Hjorth
Daniel Appelgren
Janne Björkander
Charlotte Dahle
Mats Nilsson
Åsa Nilsdotter-Augustinsson
Jan Ernerudh
Sofia Nyström

Frontiers in Immunology

doi 10.3389/fimmu.2024.1442749

1,207 views

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

1,673 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

1,418 views

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

1,048 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

1,580 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

1,075 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

1,138 views

Original Research

Accepted on 12 Jul 2024

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 Schaffer
Bodo Grimbacher

Frontiers in Immunology

doi 10.3389/fimmu.2024.1447995

141 views

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

2,580 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

997 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

1,467 views

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Articles

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review

Unraveling the unphosphorylated STAT3–unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome

Editorial: Transition care in primary immunodeficiencies

MicroRNA dysregulation in ataxia telangiectasia

Immunological characterization of IgG subclass deficiency reveals decreased Tregs and increased circulating costimulatory and regulatory immune checkpoints

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

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

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

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

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

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

The Effect of HLA Genotype on Disease Onset and Severity in CTLA-4 Insufficiency

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

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

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