title: 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.
authors.affiliation: Department of Pediatrics, Dr. Balabhai Nanavati Hospital, Mumbai, India, deandoc2000@hotmail.com.
authors.forename: Rashid H
authors.initials: RH
authors.lastname: Merchant
authors.forename: Javed
authors.initials: J
authors.lastname: Ahmed
authors.forename: Noor
authors.initials: N
authors.lastname: Ahmed
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
mesh_terms: D002675:Child, Preschool; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000235:genetics*; D007194:India; D008297:Male; D009154:Mutation