Case Report

Published on 27 Sep 2024

Lanadelumab in a kidney transplant patient with hereditary angioedema due to C1-inhibitor deficiency and high cardiovascular risk - a case report

in Primary Immunodeficiencies

Antonio Gidaro
Leyla La Cava
Mattia Donadoni
Valentina Popescu Janu
Chiara Cogliati
Antonio Luca Brucato
Andrea Zanichelli
Mauro Cancian
Emanuele Bizzi

Frontiers in Immunology

doi 10.3389/fimmu.2024.1472390

704 views

Case Report

Published on 18 Sep 2024

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia

in Primary Immunodeficiencies

Alevtina Gall
Marita Bosticardo
Stacey Ma
Karin Chen
Kayla Amini
Francesca Pala
Ottavia M. Delmonte
Tara Wenger
Michael Bamshad
John Sleasman

Frontiers in Immunology

doi 10.3389/fimmu.2024.1438383

898 views

Original Research

Published on 10 Sep 2024

Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study

in Primary Immunodeficiencies

Heba M. Bintalib
Sofia Grigoriadou
Smita Y. Patel
Leman Mutlu
Kavitha Sooriyakumar
Prashantha Vaitla
Elizabeth McDermott
Elizabeth Drewe
Cathal Steele
Manisha Ahuja

Frontiers in Immunology

doi 10.3389/fimmu.2024.1451813

1,390 views

Correction

Published on 05 Sep 2024

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency

in Primary Immunodeficiencies

Francesca Rucci
Pietro Luigi Poliani
Stefano Caraffi
Tiziana Paganini
Elena Fontana
Silvia Giliani
Frederick W. Alt
Luigi Daniele Notarangelo

Frontiers in Immunology

doi 10.3389/fimmu.2024.1467807

512 views

Case Report

Published on 02 Sep 2024

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia

in Primary Immunodeficiencies

Susan Farmand
Susanne Eva Aydin
Katharina Wustrau
Svea Böhm
Francis Ayuk
Gabriele Escherich
Julia Skokowa
Ingo Müller
Kai Lehmberg

Frontiers in Immunology

doi 10.3389/fimmu.2024.1373495

739 views
1 citation

Original Research

Published on 29 Aug 2024

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy

in Primary Immunodeficiencies

Ehren Dancy
Pamela Stratton
Dominique C. Pichard
Beatriz E. Marciano
Edward W. Cowen
Alison A. McBride
Koenraad Van Doorslaer
Melissa A. Merideth
Noemi Salmeri
Marybeth S. Hughes

Frontiers in Immunology

doi 10.3389/fimmu.2024.1445711

1,236 views

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

675 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

1,255 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

1,061 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

1,019 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

528 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

1,083 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

1,337 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

1,275 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

933 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

1,420 views

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Articles

Lanadelumab in a kidney transplant patient with hereditary angioedema due to C1-inhibitor deficiency and high cardiovascular risk - a case report

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia

Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy

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

MicroRNA dysregulation in ataxia telangiectasia

Editorial: Transition care in primary immunodeficiencies

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