Frontiers in Immunology | Primary Immunodeficiencies

Original Research

Published on 13 May 2024

Studying the cellular basis of small bowel enteropathy using high-parameter flow cytometry in mouse models of primary antibody deficiency

in Primary Immunodeficiencies

Ahmed D. Mohammed
Ryan A. W. Ball
Amy Jolly
Prakash Nagarkatti
Mitzi Nagarkatti
Jason L. Kubinak

Frontiers in Immunology

doi 10.3389/fimmu.2024.1278197

2,949 views
2 citations

Original Research

Published on 10 May 2024

The real life experience goes on: update after 4 years on the first cohort treated with lanadelumab at our center

in Primary Immunodeficiencies

Thomas Buttgereit
Carolina Vera Ayala
Seda Aykanat
Karsten Weller
Annika Gutsche
Marcus Maurer
Markus Magerl

Frontiers in Immunology

doi 10.3389/fimmu.2024.1405317

5,371 views
20 citations

Mini Review

Published on 10 May 2024

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.2024.1405022

4,559 views
4 citations

Original Research

Published on 25 Apr 2024

Exploring disease-specific metabolite signatures in hereditary angioedema patients

in Primary Immunodeficiencies

Adine Kanepa
Jingzhi Fan
Dmitrijs Rots
Annija Vaska
Laura Ansone
Monta Briviba
Janis Klovins
Natalja Kurjane
Kristaps Klavins

Frontiers in Immunology

doi 10.3389/fimmu.2024.1324671

3,253 views
2 citations

Case Report

Published on 25 Apr 2024

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

in Primary Immunodeficiencies

Bangtao Li
Weiming Chen
Xiaodi Cai
Yuanping Hai
Qiming Pang
Wei Xiang
Zhengzheng Zhang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1381472

2,678 views
4 citations

Original Research

Published on 23 Apr 2024

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

in Primary Immunodeficiencies

Hui-An Chen
Rai-Hseng Hsu
Ching-Ya Fang
Ankit K. Desai
Ni-Chung Lee
Wuh-Liang Hwu
Fuu-Jen Tsai
Priya S. Kishnani
Yin-Hsiu Chien

Frontiers in Immunology

doi 10.3389/fimmu.2024.1336599

8,590 views
15 citations

Original Research

Published on 18 Apr 2024

Immunogenicity of COVID-19 booster vaccination in IEI patients and their one year clinical follow-up after start of the COVID-19 vaccination program

in Primary Immunodeficiencies

Leanne P. M. van Leeuwen
Marloes Grobben
Corine H. GeurtsvanKessel
Pauline M. Ellerbroek
Godelieve J. de Bree
Judith Potjewijd
Abraham Rutgers
Hetty Jolink
Frank L. van de Veerdonk
Marit J. van Gils

Frontiers in Immunology

doi 10.3389/fimmu.2024.1390022

4,173 views
7 citations

Case Report

Published on 12 Apr 2024

Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency

in Primary Immunodeficiencies

Qiaohui Wang
Huilin Su
Jiande Han
Juhua Yang
Naiyu Lin

Frontiers in Immunology

doi 10.3389/fimmu.2024.1366840

3,183 views
9 citations

Original Research

Published on 08 Apr 2024

CARD11 regulates the thymic Treg development in an NF-κB-independent manner

in Primary Immunodeficiencies

Yu Hu
Lingli Han
Wenwen Xu
Tianci Li
Qifan Zhao
Wei Lu
Jinqiao Sun
Ying Wang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1364957

3,995 views
5 citations

Case Report

Published on 03 Apr 2024

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1

in Primary Immunodeficiencies

Giuliana Giardino
Vittoria Lanni
Massimo Mascolo
Daniela Russo
Emilia Cirillo
Roberta Romano
Francesca Cillo
Laura Grilli
Maria Rosaria Prencipe
Adriana Iuliano

Frontiers in Immunology

doi 10.3389/fimmu.2024.1370991

2,636 views
1 citation

Correction

Published on 26 Mar 2024

Corrigendum: HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

in Primary Immunodeficiencies

Silvia Ricci
Walter Maria Sarli
Lorenzo Lodi
Clementina Canessa
Francesca Lippi
Donata Dini
Marta Ferrari
Laura Pisano
Elena Sieni
Giuseppe Indolfi

Frontiers in Immunology

doi 10.3389/fimmu.2024.1400034

1,555 views

Systematic Review

Published on 07 Mar 2024

Health-related quality of life in patients with inborn errors of immunity: a bibliometric analysis

in Primary Immunodeficiencies

Ningkun Xiao
Xinlin Huang
Wanli Zang
Sergey Kiselev
Mikhail A. Bolkov
Irina A. Tuzankina
Valery A. Chereshnev

Frontiers in Immunology

doi 10.3389/fimmu.2024.1371124

5,272 views
19 citations

Original Research

Published on 05 Mar 2024

Experience of pediatric to adult transition in immunology services: patient experience questionnaire and micro-costing analysis

in Primary Immunodeficiencies

Catherine King
Katie Ridge
James Smyth
Aisling M. Flinn
Timothy Ronan Leahy
Niall Conlon

Frontiers in Immunology

doi 10.3389/fimmu.2024.1270451

3,247 views

Case Report

Published on 05 Mar 2024

Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights

in Primary Immunodeficiencies

Lihua Jiang
Sen Chen

Frontiers in Immunology

doi 10.3389/fimmu.2024.1351076

2,600 views

Case Report

Published on 04 Mar 2024

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia

in Primary Immunodeficiencies

Rada Miskovic
Jelena Ljubicic
Branka Bonaci-Nikolic
Ana Petkovic
Vladana Markovic
Ivan Rankovic
Jelena Djordjevic
Ana Stankovic
Kristel Klaassen
Sonja Pavlovic

Frontiers in Immunology

doi 10.3389/fimmu.2024.1324679

6,322 views
4 citations

Brief Research Report

Published on 26 Feb 2024

Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia

in Primary Immunodeficiencies

Joseph H. Oved
Nora M. Gibson
Kimberly Venella
Caitlin W. Elgarten
Lisa Wray
Julia T. Warren
Timothy S. Olson

Frontiers in Immunology

doi 10.3389/fimmu.2024.1369243

3,653 views
3 citations

Systematic Review

Published on 13 Feb 2024

HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

in Primary Immunodeficiencies

Silvia Ricci
Walter Maria Sarli
Lorenzo Lodi
Clementina Canessa
Francesca Lippi
Donata Dini
Marta Ferrari
Laura Pisano
Elena Sieni
Giuseppe Indolfi

Frontiers in Immunology

doi 10.3389/fimmu.2024.1282804

7,197 views
11 citations

Original Research

Published on 09 Feb 2024

TNFα: TNFR1 signaling inhibits maturation and maintains the pro-inflammatory programming of monocyte-derived macrophages in murine chronic granulomatous disease

in Primary Immunodeficiencies

Sophie L. Gibbings
Kelsey C. Haist
Elizabeth F. Redente
Peter M. Henson
Donna L. Bratton

Frontiers in Immunology

doi 10.3389/fimmu.2024.1354836

3,324 views
2 citations

Case Report

Published on 01 Feb 2024

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

in Primary Immunodeficiencies

Bandar Al-Saud
Huda Alajlan
Hibah Alruwaili
Latifa Almoaibed
Amer Al-Mazrou
Hazem Ghebeh
Monther Al-Alwan
Anas M. Alazami

Frontiers in Immunology

doi 10.3389/fimmu.2024.1329610

3,635 views
3 citations

Editorial

Published on 29 Jan 2024

Editorial: Practical recommendations and consensus for the management of immune mediated hematologic diseases

in Primary Immunodeficiencies

Bruno Fattizzo
Sigbjorn Berentsen
Wilma Barcellini

Frontiers in Immunology

doi 10.3389/fimmu.2024.1364227

3,129 views
2 citations

Mini Review

Published on 24 Jan 2024

Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis

in Primary Immunodeficiencies

Danrui Jing
Guanzhao Liang
Xiaofang Li
Weida Liu

Frontiers in Immunology

doi 10.3389/fimmu.2024.1343138

5,901 views
8 citations

Original Research

Published on 12 Jan 2024

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study

in Primary Immunodeficiencies

Ahmad Hazim Syakir Ahmad Azahari
Farheen Hakim Zada
Intan Hakimah Ismail
Intan Juliana Abd Hamid
Bruce Wee Diong Lim
Noor Akmal Shareela Ismail
Adli Ali

Frontiers in Immunology

doi 10.3389/fimmu.2023.1308305

5,464 views
2 citations

Original Research

Published on 20 Dec 2023

Portal hypertension in common variable immunodeficiency disorders – a single center analysis on clinical and immunological parameter in 196 patients

in Primary Immunodeficiencies

Leif G. Hanitsch
Sophie Steiner
Michael Schumann
Kirsten Wittke
Claudia Kedor
Carmen Scheibenbogen
Andreas Fischer

Frontiers in Immunology

doi 10.3389/fimmu.2023.1268207

4,089 views
9 citations

Case Report

Published on 18 Dec 2023

Case report: Hemophagocytic lymphohistiocytosis complicated by multiple organ dysfunction syndrome following aseptic encephalitis

in Primary Immunodeficiencies

Quan-Ting Chen
Ming-Hua Chen
Yu-Kai Lin
Ren-Hua Yeh
Chun-Chi Lu
Po-Jen Hsiao
Yueh-Feng Sung

Frontiers in Immunology

doi 10.3389/fimmu.2023.1296575

4,730 views
3 citations

1,016 articles

articles

Studying the cellular basis of small bowel enteropathy using high-parameter flow cytometry in mouse models of primary antibody deficiency

The real life experience goes on: update after 4 years on the first cohort treated with lanadelumab at our center

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

Exploring disease-specific metabolite signatures in hereditary angioedema patients

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

Immunogenicity of COVID-19 booster vaccination in IEI patients and their one year clinical follow-up after start of the COVID-19 vaccination program

Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency

CARD11 regulates the thymic Treg development in an NF-κB-independent manner

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1

Corrigendum: HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

Health-related quality of life in patients with inborn errors of immunity: a bibliometric analysis

Experience of pediatric to adult transition in immunology services: patient experience questionnaire and micro-costing analysis

Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia

Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia

HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

TNFα: TNFR1 signaling inhibits maturation and maintains the pro-inflammatory programming of monocyte-derived macrophages in murine chronic granulomatous disease

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

Editorial: Practical recommendations and consensus for the management of immune mediated hematologic diseases

Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study

Portal hypertension in common variable immunodeficiency disorders – a single center analysis on clinical and immunological parameter in 196 patients

Case report: Hemophagocytic lymphohistiocytosis complicated by multiple organ dysfunction syndrome following aseptic encephalitis