X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis. (17th November 2017)

• Record Type: Journal Article
• Authors: Qiu, Kun-yin; Liao, Xiong-yu; Wu, Ruo-hao; Huang, Ke; Fang, Jian-pei; Zhou, Dun-hua
• Is Part Of: Pediatric hematology and oncology. Volume 34:Number 8(2017)
• Page Start: 428
• Page End: 434
• Publication Date: 2017-11-17
• Subjects: CD40LG mutation -- Crohn's disease -- hemophagocytic lymphohistiocytosis -- X-linked hyper-IgM syndrome; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Hematologic Diseases -- Child; Hematologic Diseases -- Infant; Neoplasms -- Child; 618.9215
• DOI: 10.1080/08880018.2017.1409301
• Languages: English
• ISSNs: 0888-0018

Abstract

ABSTRACT: X-linked hyper-immunoglobulin M (IgM) syndrome is characterized by recurrent infections, low or undetectable levels of IgG and IgA, and normal to increased serum IgM, and is also rare. It is associated with mutation in the gene encoding CD40 ligand. This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and hemophagocytic lymphohistiocytosis. Also, the clinical implications of this mutation and associated atypical phenotype are discussed.