Original Research

Published on 15 Nov 2024

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study

in Primary Immunodeficiencies

Eduardo Lopez-Granados
Rebeca Rodríguez-Pena
J. Gonzalo Ocejo-Vinyals
Lucía Del Pino Molina

Frontiers in Immunology

doi 10.3389/fimmu.2024.1476218

212 views

Case Report

Published on 13 Nov 2024

Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

in Primary Immunodeficiencies

Renan Cesar Sbruzzi
Mayara Jorgens Prado
Bibiana Fam
Helena Ashton Prolla
Alessandra Hellwig
Grazielle Motta Rodrigues
Fernanda de-Paris
Mariana Jobim
Osvaldo Artigalás
Yoann Seeleuthner

Frontiers in Immunology

doi 10.3389/fimmu.2024.1472957

180 views

Original Research

Published on 11 Nov 2024

CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome

in Primary Immunodeficiencies

Karl Balabanian
Marion Espeli
Robert Johnson
Barbara Maierhofer
Halenya Monticelli
Zeina Abou Nader
Vanessa Gourhand
Maria Kalogeraki
Mélanie Khamyath
Katarina Zmajkovicova

Frontiers in Immunology

doi 10.3389/fimmu.2024.1468823

252 views

Case Report

Accepted on 08 Nov 2024

Case Report: A Cyclic Neutropenia Patient with ELANE Mutation Accompanied by Hemophagocytic Lymphohistiocytosis

in Primary Immunodeficiencies

Lang Yu
Yulin Li
Wenhui Li
Yishi Zhang
Wenli He
Xuemei Tang
Yunfei An
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2024.1474429

Original Research

Published on 07 Nov 2024

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

in Primary Immunodeficiencies

Lina Zhou
Xiaodong Zhao
Xuemei Tang
Yunfei An
Zhi-Yong Zhang
Ying Dou
Lang Yu
Yu Huang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1460990

202 views

Case Report

Accepted on 04 Nov 2024

Perspectives in newborn screening for SCID in Japan. Case report: Newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

in Primary Immunodeficiencies

Shiro Beppu
Takuro Nishikawa
Dan Tomomasa
Atsushi Hijikata
Hiroshi Kasabata
Hideyuki Terazono
Kazuro Ikawa
Tatsuro Nakamura
Shogo Horikawa
Jun Nagahama

Frontiers in Immunology

doi 10.3389/fimmu.2024.1478411

Original Research

Published on 30 Oct 2024

Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers

in Primary Immunodeficiencies

Arundhati G. Nair
Matilde Leon-Ponte
Vy HD Kim
Gordon Sussman
Götz R.A. Ehrhardt
Eyal Grunebaum

Frontiers in Immunology

doi 10.3389/fimmu.2024.1451232

183 views

Case Report

Published on 30 Oct 2024

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report

in Primary Immunodeficiencies

Yu Li
Zhengping Huang
Yun Yan
Feng Guo
Gang Wei
Yue Wang
Yu Xie

Frontiers in Immunology

doi 10.3389/fimmu.2024.1445420

226 views

Case Report

Accepted on 28 Oct 2024

Case report: Pediatric patient with severe clinical course of CTLA-4 insufficiency treated with HSCT

in Primary Immunodeficiencies

Katarzyna Drabko
Julia Zarychta
Adrian Kowalczyk
Magdalena Cienkusz

Frontiers in Immunology

doi 10.3389/fimmu.2024.1484467

Original Research

Published on 23 Oct 2024

Calculated globulin can be used as a screening test for antibody deficiency in children and adolescents

in Primary Immunodeficiencies

Cristina Frias Sartorelli de Toledo Piza
Carolina Sanchez Aranda
Dirceu Solé
Stephen Jolles
Antonio Condino-Neto

Frontiers in Immunology

doi 10.3389/fimmu.2024.1495564

470 views

Original Research

Accepted on 21 Oct 2024

Complications of the Bacillus Calmette-Guerin vaccine as an early warning sign of inborn errors of immunity: A report of 197 patients

in Primary Immunodeficiencies

Mohammad Reza Fazlollahi
Ali Goudarzi
Maryam Nourizadeh
Maryam Mahloojirad
Zeinab Adab
Leila Moradi
Anahita Razaghian
Nastaran Sabetkish
Zahra Pourpak
Mostafa Moin

Frontiers in Immunology

doi 10.3389/fimmu.2024.1477499

111 views

Original Research

Published on 16 Oct 2024

The impact of immune dysregulation on the risk of malignancy in common variable immunodeficiency: insights from a multicenter study

in Primary Immunodeficiencies

Marta Dafne Cabañero-Navalon
Victor Garcia-Bustos
Héctor Balastegui-Martin
Carmen Bracke
Lourdes Mateu
Xavier Solanich
Juan Luis Carrillo-Linares
Angel Robles-Marhuenda
Francesc Puchades
Ana Pelaez Ballesta

Frontiers in Immunology

doi 10.3389/fimmu.2024.1465159

576 views

Review

Published on 14 Oct 2024

Functional role of UNC13D in immune diseases and its therapeutic applications

in Primary Immunodeficiencies

Van-Thanh Duong
Dongjun Lee
Yun Hak Kim
Sae-Ock Oh

Frontiers in Immunology

doi 10.3389/fimmu.2024.1460882

881 views

Original Research

Published on 10 Oct 2024

Sentiment analysis of subcutaneous and intravenous immunoglobulin therapy: public healthcare perception through social media discourse

in Primary Immunodeficiencies

Alejandro Tarango-García
Silvia Rodríguez-Narciso
Netzahualcóyotl Castañeda-Leyva
Hannia M. Prieto-Nevárez
Saul O. Lugo Reyes
Francisco J. Espinosa-Rosales
Sara Elva Espinosa-Padilla
Aidé T. Staines-Boone
Luis F. Torres-Bernal
Aristóteles Álvarez-Cardona

Frontiers in Immunology

doi 10.3389/fimmu.2024.1467852

585 views

Perspective

Published on 02 Oct 2024

Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress

in Primary Immunodeficiencies

Wai Leng Chang
Lokman Mohd Noh
Amir Hamzah Abdul Latiff
Kent Chee Keen Woo
Intan Hakimah Ismail
Intan Juliana Abd Hamid
Sangeetha Siniah
Mohd Azri Zainal Abidin
Marina Sham
Adiratna Mat Ripen

Frontiers in Immunology

doi 10.3389/fimmu.2024.1456769

515 views

Original Research

Published on 02 Oct 2024

Newborn screening for SCID: the very first prospective pilot study from Türkiye

in Primary Immunodeficiencies

Sule Haskologlu
Senem Kocak
Lale Satiroglu Tufan
Fethiye Eken Aksoy
Dilan Bastug
Deniz Aslar Oner
Candan Islamoglu
Kubra Baskin
Saliha Esenboga
Deniz Acican

Frontiers in Immunology

doi 10.3389/fimmu.2024.1384195

754 views

Navigation group

Articles

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study

Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome

Case Report: A Cyclic Neutropenia Patient with ELANE Mutation Accompanied by Hemophagocytic Lymphohistiocytosis

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

Perspectives in newborn screening for SCID in Japan. Case report: Newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report

Case report: Pediatric patient with severe clinical course of CTLA-4 insufficiency treated with HSCT

Calculated globulin can be used as a screening test for antibody deficiency in children and adolescents

Complications of the Bacillus Calmette-Guerin vaccine as an early warning sign of inborn errors of immunity: A report of 197 patients

The impact of immune dysregulation on the risk of malignancy in common variable immunodeficiency: insights from a multicenter study

Functional role of UNC13D in immune diseases and its therapeutic applications

Sentiment analysis of subcutaneous and intravenous immunoglobulin therapy: public healthcare perception through social media discourse

Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress

Newborn screening for SCID: the very first prospective pilot study from Türkiye