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

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

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

Front Immunol. 2022 Dec 9:13:944810. doi: 10.3389/fimmu.2022.944810. eCollection 2022.

Affiliations

¹ Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
² Department of Pediatrics, University of Tor Vergata, Rome, Italy.
³ Department of Pathology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
⁴ Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
⁵ Department of Pediatrics, Policlinico Giovanni XXIII, Bari, Italy.
⁶ Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.

Abstract

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.

Keywords: LRBA deficiency; Rosai-Dorfman’s disease; autoimmunity; neonatal diabetes; primary immunodeficiencies.

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing
Arthritis*
Histiocytosis, Sinus* / diagnosis
Histiocytosis, Sinus* / genetics
Histiocytosis, Sinus* / pathology
Humans
Lymphadenopathy*

Substances

LRBA protein, human
Adaptor Proteins, Signal Transducing