A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.
Am J Med Genet A
; 194(6): e63568, 2024 06.
Article
en En
| MEDLINE
| ID: mdl-38353426
ABSTRACT
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often lead to delayed diagnosis or misdiagnosis. We report an 11-year-old boy with DADA2 and provide a preliminary analysis of genotype-phenotype correlation. The age of onset of the disease was 8 years old. The disease successively involved the brainstem, muscles, joints, and cerebrum. After three relapse-remission episodes over 3 years, the patient was finally diagnosed with DADA2 by whole-exome sequencing. Compound heterozygous variants in the ADA2 gene (NM_001282225.2 c.1072G>A, p.Gly358Arg; c.419dupC, p.Arg141Lysfs*37) were found in the patient. He did not receive anti-TNF therapy and had no relapse after a 8-month follow-up. We identified a novel variant of the ADA2 gene, and the associated disease course may follow a relapse-remission pattern. Homozygous mutations of p.Gly358Arg can cause pure red cell aplasia, whereas compound heterozygous variations may lead to different phenotypes. Variants in the catalytic domain and frameshift mutations may also cause relatively benign phenotypes besides causing hematological disorders. Further studies are needed to clarify the genotypic-phenotypic relationship of this disease.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Adenosina Desaminasa
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Péptidos y Proteínas de Señalización Intercelular
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Enfermedades Autoinflamatorias Hereditarias
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Estudios de Asociación Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Humans
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Male
Idioma:
En
Año:
2024
Tipo del documento:
Article