Frontiers in Immunology | Primary Immunodeficiencies

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

995 views

Original Research

Published on 11 Nov 2024

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

in Primary Immunodeficiencies

Lilian Roland
Chi Huu Nguyen
Katarina Zmajkovicova
Mélanie Khamyath
Maria Kalogeraki
Bérénice Schell
Vanessa Gourhand
Vincent Rondeau
Zeina Abou Nader
Halenya Monticelli

Frontiers in Immunology

doi 10.3389/fimmu.2024.1468823

964 views

Original Research

Published on 07 Nov 2024

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

in Primary Immunodeficiencies

Yu Huang
Lu Li
Ran Chen
Lang Yu
Shunkai Zhao
Yanjun Jia
Ying Dou
Zhiyong Zhang
Yunfei An
Xuemei Tang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1460990

714 views

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

751 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

884 views

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

822 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

1,214 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

1,954 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

842 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

940 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

1,382 views

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

1,184 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

1,337 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

1,754 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

607 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

952 views
1 citation

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Articles

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

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

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

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

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

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