Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.,European Journal of Immunology

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Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
European Journal of Immunology ( IF 4.5 ) Pub Date : 2020-07-24 , DOI: 10.1002/eji.202048549
Francesca Schena ₁ , Federica Penco ₁ , Stefano Volpi _{1,

2} , Claudia Pastorino ₁ , Roberta Caorsi ₃ , Francesca Kalli ₄ , Daniela Fenoglio _{4,

5} , Annalisa Salis ₆ , Arinna Bertoni ₁ , Ignazia Prigione ₁ , Paola Bocca ₁ , Antonella Insalaco ₇ , Fabrizio De Benedetti ₇ , Francesca Antonini ₈ , Alice Grossi ₉ , Sara Signa _{1,

2} , Gianluca Damonte ₆ , Isabella Ceccherini ₉ , Gilberto Filaci _{4,

10} , Elisabetta Traggiai ₁₁ , Marco Gattorno _{1,

3}

Affiliation

Unità Operativa Semplice Dipartimentale Centro Malattie Autoinfiammatorie e Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Dipartimento di Neuroscienze, riabilitazione, oftalmologia, genetica e scienze materno-infantili (DINOGMI), Università degli studi di Genova, Genova, Italy.
Unità Operativa Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Center of Excellence for Biomedical Research/Department of Internal Medicine, Università di Genova, Genova, Italy.
Ospedale Policlinico San Martino, Genova, Italy.
Department of Experimental Medicine and Center of Excellence for Biomedical Research, Università di Genova, Genova, Italy.
Division of Rheumatology, Department of Pediatric Medicine, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Core Facilities Flow-Cytometry and Cell Imaging Laboratory, IRCCS Istituto Giannina Gaslini, Genova, Italy.
UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Biotherapy Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Novartis Institutes for Biomedical Research, Basel, Switzerland.

Adenosine deaminase 2 deficiency (DADA2) is an autoinflammatory disease characterized by inflammatory vasculopathy, early strokes associated often with hypogammaglobulinemia. Pure red cell aplasia, thrombocytopenia, and neutropenia have been reported. The defect is due to biallelic loss of function of ADA2 gene, coding for a protein known to regulate the catabolism of extracellular adenosine. We therefore investigated immune phenotype and B‐ and T‐cell responses in 14 DADA2 patients to address if ADA2 mutation affects B‐ and T‐cell function.

中文翻译：

ADA2缺乏症患者的B细胞反应和T滤泡辅助细胞功能异常。

腺苷脱氨酶2缺乏症（DADA2）是一种以炎症性血管病为特征的自身炎症性疾病，早期卒中常与低血球蛋白血症相关。已有纯红细胞发育不全，血小板减少和中性粒细胞减少的报道。缺陷是由于ADA2基因的双等位基因功能丧失，该基因编码一种已知调节细胞外腺苷分解代谢的蛋白质。因此，我们调查了14位DADA2患者的免疫表型以及B细胞和T细胞反应，以探讨ADA2突变是否影响B细胞和T细胞功能。

更新日期：2020-07-24

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