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Type І hyper IgM syndrome with novel mutation from India.

Abstract
Hyper IgM syndrome is a primary immunodeficiency disorder characterized by normal or raised levels of immunoglobulin (Ig) M with low or absent IgG, IgA, and IgE. Five genetic causes of Hyper IgM have been identified. CD40L is deficient on T cells in Type І Hyper IgM, leading to defective interaction between T and B lymphocytes and consequently an inability to switch from production of IgM to other classes of antibodies. This manuscript reports a patient with X linked Hyper IgM (XHIGM) syndrome caused by a novel mutation in the CD40 Ligand (CD40L) gene and a favorable outcome after bone marrow transplantation.
AuthorsRashid H Merchant, Javed Ahmed, Noor Ahmed, Capucine Picard
JournalIndian journal of pediatrics (Indian J Pediatr) Vol. 81 Issue 6 Pg. 620-2 (Jun 2014) ISSN: 0973-7693 [Electronic] India
PMID23604614 (Publication Type: Case Reports, Journal Article)
Topics
  • Child, Preschool
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 (genetics)
  • India
  • Male
  • Mutation

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