| Literature DB >> 30053428 |
Amit Rawat1, Babu Mathew1, Vignesh Pandiarajan1, Ankur Jindal1, Madhubala Sharma1, Deepti Suri1, Anju Gupta1, Shubham Goel2, Adil Karim2, Biman Saikia2, Ranjana W Minz2, Kohsuke Imai3, Shigeaki Nonoyama4, Osamu Ohara5, Silvia Clara Giliani6, Luigi D Notarangelo7, Koon-Wing Chan8, Yu-Lung Lau9, Surjit Singh10.
Abstract
X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). We analyzed the clinical and laboratory features of ten patients with XLHIGM, who were diagnosed at a tertiary care hospital in North India. Most common infections were sinopulmonary infections (80%) and diarrhea (50%). Sclerosing cholangitis and necrotising fasciitis were noted in one patient each. Three novel mutations in CD40LG (c.429_429 delA, p. G144DfsX5; c.500 G > A, p.G167E and c.156 G > C, p.K52 N) were detected. In addition, we found one missense mutation, two splice site mutations and two large deletions, which have been previously reported. Four (4) patients had expired at the time of analysis. We report the first series of XLHIGM from North India where we have documented unique features such as pulmonary alveolar proteinosis and infections with Mycobacterium sp.Entities:
Keywords: CD40 ligand; Immunoglobulin class switching; Mycobacterium sp.; Neutropenia; Pulmonary alveolar proteinosis; X-linked hyper-IgM syndrome
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Year: 2018 PMID： 30053428 PMCID： PMC6666391 DOI： 10.1016/j.clim.2018.07.013
Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969