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X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Abstract
Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.
AuthorsHu-Yuan Tsai, Hsin-Hui Yu, Yin-Hsiu Chien, Kuan-Hua Chu, Yu-Lung Lau, Jyh-Hong Lee, Li-Chieh Wang, Bor-Luen Chiang, Yao-Hsu Yang
JournalJournal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi (J Microbiol Immunol Infect) Vol. 48 Issue 1 Pg. 113-8 (Feb 2015) ISSN: 1995-9133 [Electronic] England
PMID23010537 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2012. Published by Elsevier B.V.
Chemical References
  • Codon, Nonsense
  • CD40 Ligand
Topics
  • Adolescent
  • CD40 Ligand (genetics)
  • Codon, Nonsense
  • Exons
  • Fatal Outcome
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 (diagnosis, genetics)
  • Immunocompromised Host
  • Infant
  • Male
  • Mutation, Missense
  • Opportunistic Infections (epidemiology)
  • Point Mutation
  • Taiwan

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