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Journal of Clinical Immunology OnlineFirst articles

03.02.2023 | Original Article

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications

Genomic band 11.2 of human chromosome 22 harbors well-characterized region-specific low copy repeats (LCRs) which are prone to DNA rearrangements during meiotic crossover through non-allelic homologous recombination [ 1 ]. Deletions or duplications …

verfasst von:
Dharmagat Bhattarai, Daniel E. McGinn, T. Blaine Crowley, Victoria Giunta, Kimberly Gaiser, Elaine H. Zackai, Beverly S. Emanuel, Jennifer Heimall, Soma Jyonouchi, Juhee Lee, Di Sun, Donna M. McDonald-McGinn, Kathleen E. Sullivan

02.02.2023 | Letter to Editor

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11

verfasst von:
Amie Nguyen, Henry Y. Lu, Stuart E. Turvey, Andrew L. Snow, USUHS-NIAID-KPLA Consortium

Open Access 02.02.2023 | Original Article

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)

Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1) [ 1 ]. TRNT1 is an important enzyme …

verfasst von:
Yan Li, Mengyue Deng, Tongxin Han, Wenxiu Mo, Huawei Mao

Open Access 01.02.2023 | Original Article

The Association of Serum Immunoglobulins with Risk of Cardiovascular Disease and Mortality: the Rotterdam Study

Cardiovascular disease (CVD) is the main cause of disability and mortality worldwide with atherosclerosis as the most common underlying pathology [ 1 , 2 ]. The etiology of atherosclerosis is complex but involves several metabolic and inflammatory …

verfasst von:
Samer R. Khan, Virgil A. S. H. Dalm, M. Kamran Ikram, Robin P. Peeters, P. Martin van Hagen, Maryam Kavousi, Layal Chaker

27.01.2023 | Letter to Editor

Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex

verfasst von:
Yanick J. Crow, for the AGS group

20.01.2023 | Original Article

Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study

Bacille Calmette-Guérin (BCG)—a live, attenuated strain of Mycobacterium bovis —is the only recommended vaccine by the World Health Organization (WHO) against tuberculosis, and neonates born in areas with high tuberculosis incidences, such as …

verfasst von:
Yuyuan Zeng, Wenjing Ying, Wenjie Wang, Jia Hou, Luyao Liu, Bijun Sun, Xiaoying Hui, Yu Gu, Xiaoyu Song, Xiaochuan Wang, Jinqiao Sun

20.01.2023 | Original Article

Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan

Inborn errors of immunity (IEI) are a group of diseases, occurring only in approximately 2–10 per 100,000 people, and it includes more than 450 diseases with varying clinical characteristics [ 1 – 5 ]. Early diagnosis enables prompt therapeutic …

verfasst von:
Takahiro Kido, Sho Hosaka, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada

20.01.2023 | Correction

Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE‑1 Element Insertion Resulting in Chronic Granulomatous Disease

verfasst von:
Lang Yu, Wenhui Li, Ge Lv, Gan Sun, Lu Yang, Junjie Chen, Lina Zhou, Yuan Ding, Zhiyong Zhang, Xuemei Tang, Yunfei An, Xiaodong Zhao

18.01.2023 | Letter to Editor

Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings

verfasst von:
Marion R. Roderick, Lucy Jefferson, William Renton, Alexandre Belot, PRKCD Consortium

17.01.2023 | Original Article

A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family

Leukocyte adhesion deficiency-III (LAD-III) is an extremely rare autosomal recessive syndrome caused by mutations in FERMT3, the gene encoding kindlin-3. The genetic alterations in this gene lead to abnormal expression or activity of kindlin-3 in …

verfasst von:
Nezihe Köker, İhsan Deveci, Karin van Leeuwen, Sinan Akbayram, Dirk Roos, Taco W. Kuijpers, Mustafa Yavuz Köker

17.01.2023 | Letter to Editor

STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage

verfasst von:
Clara Ladoux, Marlène Pasquet, Yanick J. Crow, Marie Louise Frémond, Léa Roditis

13.01.2023 | Letter to Editor

Severe Periodontitis in Adults with Chronic Granulomatous Disease

verfasst von:
Jorge Beltrán-Bustamante, Juan Carlos Bustamante Ogando, Eduardo De la Teja Ángeles, Lizbeth Blancas Galicia, Chronic Granulomatous Disease Consortium

12.01.2023 | Letter to Editor

Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency

verfasst von:
Andrea Sitek, Anna Ligezka, Rohit Budhraja, Eva Morava, Sergio E. Chiarella

11.01.2023 | Original Article

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare group of inborn errors of immunity (IEI) characterized by selective susceptibility to infections caused by weakly virulent mycobacteria, such as Bacille Calmette-Guérin (BCG) …

verfasst von:
Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Jalila El Bakkouri, Leila Jeddane, Noureddine Rada, Noufissa Benajiba, Khaoula Mokhantar, Kaoutar Ouazahrou, Sanae Zaidi, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Ahmed Aziz Bousfiha

10.01.2023 | Original Article

Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections

Patients with inhibitory and neutralizing autoantibodies against IFN-γ (AutoAbs-IFN-γ), as an adult-onset immunodeficiency [ 1 ] or anti-cytokine autoantibody syndrome [ 2 ], present with recurrent and various refractory non-tuberculous …

verfasst von:
Wen-I. Lee, Yao-Fan Fang, Jing-Long Huang, Huey-Ling You, Meng-Ying Hsieh, Wan-Ting Huang, Chi-Jou Liang, Chen-Chen Kang, Ting-Shu Wu

Open Access 05.01.2023 | Original Article

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome

Pathogenic FOXP3 variants cause immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a progressive autoimmune disease resulting from disruption of the regulatory T cell (Treg) compartment. Assigning pathogenicity to novel …

verfasst von:
Rebecca C. Wyatt, Sven Olek, Elisa De Franco, Bjoern Samans, Kashyap Patel, Jayne Houghton, Steffi Walter, Janika Schulze, Rosa Bacchetta, Andrew T. Hattersley, Sarah E. Flanagan, Matthew B. Johnson

Open Access 04.01.2023 | Letter to Editor

Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype

verfasst von:
Tianyu Zhang, Zhongxun Yu, Sihao Gao, Lin Wang, Hongmei Song

04.01.2023 | Letter to Editor

Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening

verfasst von:
Maarja Soomann, Seraina Prader, Jana Pachlopnik Schmid, Tayfun Güngör, Johannes Trück

23.12.2022 | Letter to Editor

XLA and Recurrent Conjunctivitis: a Unique Association?

A retrospective case–control study was carried out at two sites: The Regional Immunology Services of Northern Ireland and St. James’s Hospital, Dublin, Republic of Ireland. Local ESID (European Society of Immunodeficiency) registry databases were …

verfasst von:
Vyanka Redenbaugh, Anne Sloan, Jacklyn Sui, John David Edgar, Tanya Coulter

17.12.2022 | Letter to Editor

Lupus Vulgaris Revealing an IκBα Gain of Function Variant

verfasst von:
Bruce Tapiero, Catherine Maari, Victor Kokta, Isabel Fernandez, Fabien Touzot