Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.

Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants.

Primary Adrenal Insufficiency Masked by an Eating Disorder Diagnosis in an Adolescent Male.

We describe a 14-year-old male who was followed for several years for the diagnoses of avoidant restrictive food intake disorder and generalized anxiety disorder before being diagnosed with primary adrenal insufficiency (PAI) or Addison disease. The patient presented multiple times to different facilities with worsening symptoms of anorexia, nausea, vomiting, and anxiety in the months leading up to diagnosis of PAI. Dehydration and hypotension, occurring relatively late in the course of his illness, were attributed to poor intake and vomiting.

The Relationship between Metabolic Comorbidities and Post-Surgical Weight Loss Outcomes in Adolescents Undergoing Laparoscopic Sleeve Gastrectomy.

Introduction: Little is known about the relationship between metabolic factors and weight loss success in adolescents undergoing bariatric surgery.

Methods: The objective of this study was to assess if baseline metabolic characteristics associate with weight loss in adolescents undergoing laparoscopic sleeve gastrectomy. A retrospective study was conducted in a comprehensive adolescent bariatric surgery center of 151 subjects (34 male, 117 female).