Learn to recognize... When the intestine challanges us
Graziella Guariso (1); Marco Gasparetto (2)
1Università degli Studi di Padova2Università degli Studi di Padova, Cambridge University Hospitals Paediatric Gastroenterology Unit
We report the case of a child with severe diarrhea in the first weeks of life, and progressive deterioration with dehydration and metabolic acidosis. Lymphocytic phenotype testing and subsequent sequencing of the gene IL2RA/CD25 confirmed a diagnosis of CD25 deficiency. A prompt molecular diagnosis enabled an early and successful hematopoietic stem cell transplantation.