Frontiers in Immunology | Primary Immunodeficiencies

Case Report

Accepted on 13 Jan 2025

Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott-Aldrich syndrome: a case report

in Primary Immunodeficiencies

Le Nguyen Ngoc Quynh
Nguyen Thanh Binh
Lien Luong Thi
Thuy Nguyen Thi Dieu
Duong Dang Anh
Pamela P Lee
Pamela P Lee
Dien Tran Minh

Frontiers in Immunology

doi 10.3389/fimmu.2025.1495666

600 views

Perspective

Published on 13 Jan 2025

Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment

in Primary Immunodeficiencies

Francesca Conti
Mattia Moratti
Elena Sabattini
Pier Luigi Zinzani

Frontiers in Immunology

doi 10.3389/fimmu.2024.1517543

332 views

Review

Accepted on 10 Jan 2025

Multidisciplinary Approach to Treating Complex Immune Dysregulation Disorders: An Adaptive Model for Institutional Implementation

in Primary Immunodeficiencies

Lauren Henderson
Roshini Sarah Abraham
Aisha Ahmed
Lindsey Swigart
Scott W Canna
Natalia S Chaimowitz
Shanmuganathan Chandrakasan
Bria Coates
James A Connelly
Megan Anne Cooper

Frontiers in Immunology

doi 10.3389/fimmu.2025.1519955

Original Research

Accepted on 10 Jan 2025

CD21 low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation

in Primary Immunodeficiencies

Peter Tobias Felixberger
Geoffroy Andrieux
Andrea Maul-Pavicic
Sigune Goldacker
Ina Harder
Sylvia Gutenberger
Jonathan J. M. Landry
Vladimir Benes
Till Fabian Jakob
Melanie Boerries

Frontiers in Immunology

doi 10.3389/fimmu.2025.1512279

139 views

Case Report

Published on 08 Jan 2025

Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report

in Primary Immunodeficiencies

Azadeh Kiumarsi
Amirarsalan Alaei
Mohsen Nikbakht
Saeed Mohammadi
Mohammad Reza Ostad-Ali
Zahra Rasti
Tahereh Rostami

Frontiers in Immunology

doi 10.3389/fimmu.2024.1475448

279 views

Case Report

Published on 07 Jan 2025

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis

in Primary Immunodeficiencies

Qin Ying Lim
Daniel Leung
Crystal K. Lam
Xingtian Yang
Kai N. Cheong
Andrew K. H. Yik
Jing Yang
Koon-Wing Chan
Pamela P. W. Lee
Miyuki Tsumura

Frontiers in Immunology

doi 10.3389/fimmu.2024.1504816

319 views

Original Research

Published on 06 Jan 2025

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 A. Schäffer
Bodo Grimbacher

Frontiers in Immunology

doi 10.3389/fimmu.2024.1447995

579 views

Case Report

Accepted on 31 Dec 2024

Case report: jak-inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

in Primary Immunodeficiencies

Anna Roppelt
Ulyana Markina
Irina Beloglazova
Vasily Parshin
Dmitry Kanner
Dmitry Pershin
Mariia Fadeeva
Elena Raykina
Maxim Aleksenko
Alexander Victor Karaulov

Frontiers in Immunology

doi 10.3389/fimmu.2024.1523256

Original Research

Published on 24 Dec 2024

PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect

in Primary Immunodeficiencies

Linlin Yang
Barbara Zerbato
Alex Pessina
Luca Brambilla
Virginia Andreani
Stefanie Frey-Jakobs
Manfred Fliegauf
Mohamed-Ridha Barbouche
Qiaoxia Zhang
Ferdinando Chiaradonna

Frontiers in Immunology

doi 10.3389/fimmu.2024.1500381

941 views

Case Report

Published on 10 Dec 2024

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia

in Primary Immunodeficiencies

Xin Chen
Chunxue Jiang
Wenliang Song
Tingting Sun
Jingli Yan
Wei Xu
Kai You

Frontiers in Immunology

doi 10.3389/fimmu.2024.1498066

759 views

Case Report

Published on 06 Dec 2024

Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report

in Primary Immunodeficiencies

Fabrizio Leone
Alessandra Gori
Bianca Laura Cinicola
Giulia Brindisi
Vittorio Maglione
Caterina Anania
Anna Maria Zicari

Frontiers in Immunology

doi 10.3389/fimmu.2024.1518076

598 views

Original Research

Published on 05 Dec 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
Zahra Alizadeh
Shaghayegh Tajik
Mohsen Badalzadeh
Shokouh Azam Sarafzadeh
Maryam Mahlooji Rad
Zeinab Adab
Leila Moradi

Frontiers in Immunology

doi 10.3389/fimmu.2024.1477499

846 views

Case Report

Published on 29 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

749 views

Case Report

Published on 20 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

1,043 views

Case Report

Published on 18 Nov 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

936 views

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

Lucía del Pino Molina
Keren Reche Yebra
Yolanda Soto Serrano
Álvaro Clemente Bernal
Carmen L. Avendaño-Monje
J. Gonzalo Ocejo-Vinyals
Rebeca Rodríguez Pena
Eduardo López Granados

Frontiers in Immunology

doi 10.3389/fimmu.2024.1476218

1,069 views

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Articles

Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott-Aldrich syndrome: a case report

Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment

Multidisciplinary Approach to Treating Complex Immune Dysregulation Disorders: An Adaptive Model for Institutional Implementation

CD21 low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation

Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis

The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency

Case report: jak-inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia

Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report

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

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis

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

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

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