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  • Pancreas: An irregularly-shaped gland in the abdomen that secretes digestive enzymes into the duodenum as well as hormones important for the regulation of blood glucose levels (e.g., insulin).
  • Pancreatitis: Inflammation of the pancreas that causes nausea, vomiting, and intense abdominal or flank pain.
  • Paroxysm: In medicine, a paroxysm is a violent attack. It may be due to the sudden occurrence of symptoms or the acute exacerbation of preexisting symptoms.
  • Phenotype: The observable physical and/or biochemical characteristics of the expression of a gene; the clinical presentation of an individual with a particular genotype.
  • Point Mutations: Nucleotide substitutions that result in missense mutations, nonsense mutations or deletions and insertions.
  • Primary immunodeficiencies: A group of chronic inherited disorders that result from a genetic defect that causes part of the immune system to be missing or not function properly. This results in an increased susceptibility to infections which may present with severe, recurrent, persistent, or unusual infections.