Yersiniosis is a food-borne illness, usually self-limited. Severe clinical courses may occur in chronic conditions, particularly in immunocompromised individuals.1 Here, we report on the case of a 2-year-old girl born to consanguineous parents of Roma descent (a traditionally itinerant ethnic group living mostly in Europe and the Americas, who originate from Northern India), with chronic yersiniosis, recurrent granulomatous lymphadenitis, and episodicneutropenia. Using a targeted next-generation sequencing panel for immunodeficiency genes, a homozygous in-frame deletion in the MYD88 gene was found. MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and IL-1 receptors (IL-1Rs).2 MYD88 deficiency has been associated with life-threatening and recurrent pyogenic bacterial infections, including invasive pneumococcal disease.
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis
2016
Abstract
Yersiniosis is a food-borne illness, usually self-limited. Severe clinical courses may occur in chronic conditions, particularly in immunocompromised individuals.1 Here, we report on the case of a 2-year-old girl born to consanguineous parents of Roma descent (a traditionally itinerant ethnic group living mostly in Europe and the Americas, who originate from Northern India), with chronic yersiniosis, recurrent granulomatous lymphadenitis, and episodicneutropenia. Using a targeted next-generation sequencing panel for immunodeficiency genes, a homozygous in-frame deletion in the MYD88 gene was found. MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and IL-1 receptors (IL-1Rs).2 MYD88 deficiency has been associated with life-threatening and recurrent pyogenic bacterial infections, including invasive pneumococcal disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
