Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

Francesco Fabozzi; Francesco Fabozzi; Rita De Vito; Stefania Gaspari; Fabrizio Leone; Maurizio Delvecchio; Emanuele Agolini; Federica Galaverna; Angela Mastronuzzi; Daria Pagliara; Maria Antonietta De Ioris

doi:10.3389/fimmu.2022.944810

Frontiers in Immunology (Dec 2022)

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

Francesco Fabozzi,
Francesco Fabozzi,
Rita De Vito,
Stefania Gaspari,
Fabrizio Leone,
Maurizio Delvecchio,
Emanuele Agolini,
Federica Galaverna,
Angela Mastronuzzi,
Daria Pagliara,
Maria Antonietta De Ioris

Affiliations

Francesco Fabozzi: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Francesco Fabozzi: Department of Pediatrics, University of Tor Vergata, Rome, Italy
Rita De Vito: Department of Pathology, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Stefania Gaspari: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Fabrizio Leone: Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy
Maurizio Delvecchio: Department of Pediatrics, Policlinico Giovanni XXIII, Bari, Italy
Emanuele Agolini: Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Federica Galaverna: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Angela Mastronuzzi: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Daria Pagliara: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
Maria Antonietta De Ioris: Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy

DOI: https://doi.org/10.3389/fimmu.2022.944810
Journal volume & issue: Vol. 13

Abstract

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We reported a new pathogenic variant of LRBA deficiency with a complex phenotype—neonatal diabetes, very early-onset inflammatory bowel disease, and polyarthritis—who presented with lymph node enlargement. A case of Rosai-Dorfman’s disease (RDD) was confirmed. The occurrence of an RDD lesion in LRBA-deficiency has never been reported so far.

Published in Frontiers in Immunology

ISSN: 1664-3224 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Immunologic diseases. Allergy
Website: http://journal.frontiersin.org/journal/immunology

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