JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

MeSH terms

• Alleles
• Exome Sequencing
• Female
• Gain of Function Mutation*
• Genes, Dominant*
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotype
• Germ-Line Mutation
• Humans
• Hypereosinophilic Syndrome / diagnosis*
• Hypereosinophilic Syndrome / drug therapy
• Hypereosinophilic Syndrome / etiology*
• Immune System Diseases / diagnosis*
• Immune System Diseases / drug therapy
• Immune System Diseases / etiology*
• Immunomodulation / genetics
• Janus Kinase 1 / chemistry
• Janus Kinase 1 / genetics*
• Male
• Pedigree
• Phenotype