Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.

Adenosine Deaminase / deficiency Child Genetic Variation Humans Immunologic Deficiency Syndromes / genetics Intercellular Signaling Peptides and Proteins / deficiency Lymphocytes / immunology Male Siblings
ADA2 deficiency DADA2 Hypogammaglobulinemia Large granular lymphocytes Lymphopenia Lymphoproliferation T-cell repertoire

Journal

Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537

Informations de publication

Date de publication:
09 2020
Historique:
received: 14 04 2020
revised: 26 06 2020
accepted: 07 07 2020
pubmed: 14 7 2020
medline: 18 5 2021
entrez: 14 7 2020
Statut: ppublish

Résumé

The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.

Identifiants

DOI: 10.1016/j.clim.2020.108525 PMID: 32659374
pubmed: 32659374
pii: S1521-6616(20)30271-0
doi: 10.1016/j.clim.2020.108525
pii:
doi:

Substances chimiques

Intercellular Signaling Peptides and Proteins 0
ADA2 protein, human EC 3.5.4.4
Adenosine Deaminase EC 3.5.4.4

Types de publication

Case Reports Letter

Langues

eng

Sous-ensembles de citation

IM

Pagination

108525

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest Nothing to disclose.

Auteurs

F Saettini (F)

Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy. Electronic address: f.saettini@gmail.com.

G Fazio (G)

Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.

P Corti (P)

Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.

M Quadri (M)

Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.

C Bugarin (C)

Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.

G Gaipa (G)

Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.

F Penco (F)

Center for Autoinflammatory disease and Immunodeficiencies, IRCCS G. Gaslini, Genova, Italy.

D Moratto (D)

Flow cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.

M Chiarini (M)

Flow cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.

M Baronio (M)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

L Gazzurelli (L)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

L Imberti (L)

Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy.

S Paghera (S)

Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy.

S Giliani (S)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

G Cazzaniga (G)

Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy; Department of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.

A Plebani (A)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

R Badolato (R)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

V Lougaris (V)

Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

M Gattorno (M)

Center for Autoinflammatory disease and Immunodeficiencies, IRCCS G. Gaslini, Genova, Italy.

A Biondi (A)

Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Aminohydrolases › Nucleoside deaminases › Adenosine deaminase › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Two siblings presenting with novel ADA2...
questionsmedicales.fr › Personnes › Fratrie › Two siblings presenting with novel ADA2...