Recurrent subcutaneous abscesses and pneumonia in a toddler with a novel pathogenic variation in IL-17RA gene.
BMJ Case Rep
; 17(8)2024 Aug 22.
Article
en En
| MEDLINE
| ID: mdl-39179263
ABSTRACT
A toddler presented with recurrent subcutaneous abscesses, otitis media and pneumonia, requiring frequent hospitalisations and intravenous antimicrobials. He also had oral thrush and difficulty in gaining weight; hence, an underlying inborn error of immunity (IEI) was strongly suspected. The complete haemogram showed leucocytosis with neutrophilic predominance. Both erythrocyte sedimentation rate and C reactive protein were elevated. Klebsiella pneumoniae was isolated from blood culture. The dihydrorhodamine-123 assay was negative, and the immunoglobulin profile showed an increased IgG level. Whole exome sequencing revealed a novel homozygous pathogenic variation in the IL-17RA gene (c.2563G>A, p. Asp855Asn). He showed remarkable improvement following intravenous colistin and fluconazole with complete resolution of abscesses. Thus, it is prudent to consider the possibility of IL-17RA deficiency in children with a history of recurrent abscesses, skin ulcerations and pneumonia after excluding the common groups of IEI.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Absceso
/
Receptores de Interleucina-17
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
Reino Unido