STAT1 Gain-of-Function with Refractory Hemophagocytic Lymphohistiocytosis

A 2-year-old male, with a history significant for congenital cytomegalovirus, failure to thrive, pericardial effusion and chronic pulmonary hypertension of unknown etiology, reactive airway disease, and enteropathy with total parenteral nutrition-dependence, was initially evaluated for recurrent sinopulmonary infections and chronic mucocutaneous candidiasis (CMC). Two colonoscopies revealed pan-gastrointestinal inflammation, with suspicion that his enteropathy was related to an underlying immunodeficiency.

Source: Annals of Allergy, Asthma and Immunology - July 2, 2020 Category: Allergy & Immunology Authors: Victoria Eng, Toska Joze Zomorodian, Shefali Anil Samant, Timothy James Maarup, Javed Sheikh Tags: Letters Source Type: research