Journal of Clinical and Cellular Immunology
Open Access
ISSN: 2155-9899
ISSN: 2155-9899
Department of Medicine, All India Institute of Medical Sciences, New Delhi, India
Review
Hyper IgM Syndromes: A Brief Review of the Pathogenesis, Clinical Features and Management
Author(s): Prithivi Raaj Prakash, Gaurav Gupta*, Adarsh Aayilliath K, Sai Sashank and Sanjeev Sinha
Primary Immuno Deficiency (PID) disorders are heterogeneous disorders of the innate or the adaptive immune system, leading to recurrent infections that can also predispose to autoimmune diseases and malignancies. Hyper IgM Syndromes (HIGM) are rare disorders characterized by defective Class Switch Recombination (CSR) and/or Somatic Hypermutation (SHM) resulting in decreased levels of IgG, IgE and IgA antibodies and normal or elevated IgM levels. Various genetic defects have been identified to cause HIGM syndromes. These include intrinsic B cell defects or defects in the interaction between T and B cells, leading to a clinical phenotype of either pure humoral immunodeficiency or combined immunodeficiency respectively. HIGM syndromes with combined immunodeficiency present with recurrent opportunistic infections, notably Pneumocystis jiroveci and Cryptosporidium .. View More»
DOI:
10.35248/2155-9899.23.14.693