Immunologic disorders

Research output: Chapter in Book/Report/Conference proceedingChapter


Immunodeficiency disorders are caused by primary or acquired defects of the immune system resulting in an increased predisposition to infections, autoimmune disorders, and malignancy. Primary immunodeficiency (PID) disorders comprise a group of heterogeneous disorders caused by intrinsic defects of the immune system. The remarkable progress made with human genome studies has led to the identification of over 300 conditions associated with defects of the immune system. Majority of patients with PIDs manifest symptoms of the disease during infancy and early childhood. PIDs diagnosed later in life, typically consist of adult-onset humoral deficiencies (e.g., common variable immunodeficiency) or represent a nonclassical presentation of these disorders. For most patients, targeted therapy is not available and patients with these conditions require lifelong aggressive treatment and prophylaxis for the prevention of infections. Some monogenic forms of PID are amenable for hematopoietic stem cell transplant or gene replacement therapy.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Adult Genetics and Genomics
Subtitle of host publicationA Practice-Based Approach
Number of pages17
ISBN (Electronic)9780128173442
StatePublished - Jan 1 2020


  • Cellular deficiency
  • Genetic syndrome
  • Genetic testing
  • Humoral deficiency
  • Mutation
  • Primary immunodeficiency

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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