Combined Immunodeficiency Cid | List of Frontiers open access articles

Case Report

Published on 14 Feb 2020

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

in Pediatric Immunology

Zobaida Alsum
Mofareh S. AlZahrani
Hamoud Al-Mousa
Nouf Alkhamis
Abdulkareem A. Alsalemi
Hanan E. Shamseldin
Fowzan S. Alkuraya
Abdullah A. Alangari

Frontiers in Pediatrics

doi 10.3389/fped.2020.00009

5,802 views
9 citations

Case Report

Published on 16 Apr 2019

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

in Pediatric Immunology

Mayra B. Dorna
Pamela F. A. Barbosa
Andréia Rangel-Santos
Krisztian Csomos
Boglarka Ujhazi
Joseph F. Dasso
Daniel Thwaites
Joan Boyes
Sinisa Savic
Jolan E. Walter

Frontiers in Pediatrics

doi 10.3389/fped.2019.00122

5,513 views
10 citations

Case Report

Published on 28 Jan 2025

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

in Primary Immunodeficiencies

Sophia Trombello
Andrea Jarisch
Andre Willasch
Eva Rettinger
Julia Fekadu-Siebald
Dirk Holzinger
Roland Adelmann
Peter Bader
Shahrzad Bakhtiar

Frontiers in Immunology

doi 10.3389/fimmu.2024.1507494

3,272 views
1 citation

Review

Published on 18 Jan 2018

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

in Primary Immunodeficiencies

Birgit Hoeger
Nina Kathrin Serwas
Kaan Boztug

Frontiers in Immunology

doi 10.3389/fimmu.2017.01978

9,123 views
26 citations

Original Research

Published on 15 Dec 2021

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

in Primary Immunodeficiencies

Wenjun Mou
Shen Yang
Ruolan Guo
Libing Fu
Li Zhang
Weihong Guo
Jingbin Du
Jianxin He
Qinghua Ren
Chanjuan Hao

Frontiers in Immunology

doi 10.3389/fimmu.2021.759308

6,908 views
18 citations

Case Report

Published on 29 Jan 2019

Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency

in Primary Immunodeficiencies

Luis Ignacio Gonzalez-Granado
Raquel Ruiz-García
Javier Blas-Espada
José Manuel Moreno-Villares
Marta Germán-Diaz
Marta López-Nevado
Estela Paz-Artal
Oscar Toldos
Yolanda Rodriguez-Gil
Jaime de Inocencio

Frontiers in Immunology

doi 10.3389/fimmu.2018.03148

5,789 views
15 citations

Original Research

Published on 05 Nov 2020

Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies

in Primary Immunodeficiencies

Paul Bastard
Aurélien Galerne
Alain Lefevre-Utile
Coralie Briand
André Baruchel
Philippe Durand
Judith Landman-Parker
Elodie Gouache
Nathalie Boddaert
Despina Moshous

Frontiers in Immunology

doi 10.3389/fimmu.2020.595478

8,250 views
13 citations

Case Report

Published on 18 Jun 2020

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

in Primary Immunodeficiencies

Jennifer R. Yonkof
Ajay Gupta
Cesar M. Rueda
Shamlal Mangray
Benjamin T. Prince
Hemalatha G. Rangarajan
Mohammad Alshahrani
Elizabeth Varga
Timothy P. Cripe
Roshini S. Abraham

Frontiers in Immunology

doi 10.3389/fimmu.2020.00884

9,911 views
39 citations

Original Research

Published on 12 Sep 2025

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis

in Primary Immunodeficiencies

Lang Yu
Yulin Li
Liwen Zhang
Wenhui Li
Ming Sun
Yunfei An
Hao Xiong
Peina Jin
Xiaodong Zhao

Frontiers in Immunology

doi 10.3389/fimmu.2025.1653662

3,559 views
1 citation

Original Research

Published on 16 Oct 2020

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

in Primary Immunodeficiencies

Maria Giżewska
Katarzyna Durda
Theresa Winter
Iwona Ostrowska
Mariusz Ołtarzewski
Jeannette Klein
Oliver Blankenstein
Hanna Romanowska
Elżbieta Krzywińska-Zdeb
Michał Filip Patalan

Frontiers in Immunology

doi 10.3389/fimmu.2020.01948

12,683 views
36 citations

Systematic Review

Published on 05 May 2020

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

in Primary Immunodeficiencies

Niusha Sharifinejad
Mahnaz Jamee
Majid Zaki-Dizaji
Bernice Lo
Mohammadreza Shaghaghi
Hamed Mohammadi
Farhad Jadidi-Niaragh
Shiva Shaghaghi
Reza Yazdani
Hassan Abolhassani

Frontiers in Immunology

doi 10.3389/fimmu.2020.00831

16,640 views
43 citations

Articles

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency

Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review