A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations
Allergol. immunopatol
; 49(4): 91-97, jul. 2021. ilus, tab
Artículo
en Inglés
| IBECS
| ID: ibc-214292
Biblioteca responsable:
ES1.1
Ubicación: ES15.1 - BNCS
ABSTRACT
Introduction and objectives:
Severe combined immunodeficiency (SCID) is a subset of primary immunodeficiency diseases caused by a hereditary deficiency of the adaptive immune system. Mutation in recombination activating gene (RAG) is known as the underlying genetic cause of SCID. RAG protein plays a pivotal role in V(D)J recombination which is the main process to assemble lymphocyte antigen receptors during T- and B-cell development. The patients are characterized by recurrent infections, failure to thrive, chronic diarrhea, and fever, in early infancy. Herein, we present a case of SCID with rare neurological manifestations affected by a mutation in RAG1. Patients andmethods:
The patient was a 15-month-old infant born to a consanguineous family. She was presented with neurological abnormalities including facial nerve palsy, seizure, and decreased consciousness. Next-generation sequencing (NGS)-based primary immunodeficiency disease (PID)-gene panel screen and Sanger sequencing were performed to identify the genetic mutation.Results:
We found a novel homozygous missense mutation in RAG1, c.1210C>T,p.Arg404Trp, which was predicted to be deleterious (combined annotation dependent depletion, CADD score of 27.4). Both parents were heterozygous carriers for this mutation. According to her laboratory data, both T cell and B cell numbers were decreased and the patient was diagnosed as RAG1- SCID.Conclusions:
SCID is a pediatric emergency with a variety of manifestations in infants. Therefore, accurate diagnosis importantly in the case of rare manifestations must be considered in these patients. Our findings point toward the importance of genetic assessment for early diagnosis and timely treatment of this disorder (AU)
Texto completo:
Disponible
Colección:
Bases de datos nacionales
/
España
Base de datos:
IBECS
Asunto principal:
Inmunodeficiencia Combinada Grave
/
Proteínas de Homeodominio
/
Homocigoto
/
Enfermedades del Sistema Nervioso
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
Allergol. immunopatol
Año:
2021
Tipo del documento:
Artículo
Institución/País de afiliación:
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases/Austria
/
Ludwig Maximilians University/Germany
/
Shiraz University of Medical Sciences/Iran
/
Tehran University of Medical Sciences/Iran
/
Universal Scientific Education and Research Network (USERN)/Iran