Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India

Copyright © 2018 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 195(2018) vom: 26. Okt., Seite 59-66
1. Verfasser: Rawat, Amit (VerfasserIn)
Weitere Verfasser: Mathew, Babu, Pandiarajan, Vignesh, Jindal, Ankur, Sharma, Madhubala, Suri, Deepti, Gupta, Anju, Goel, Shubham, Karim, Adil, Saikia, Biman, Minz, Ranjana W, Imai, Kohsuke, Nonoyama, Shigeaki, Ohara, Osamu, Giliani, Silvia Clara, Notarangelo, Luigi D, Chan, Koon-Wing, Lau, Yu-Lung, Singh, Surjit
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2018
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't CD40 ligand Immunoglobulin class switching Mycobacterium sp. Neutropenia Pulmonary alveolar proteinosis X-linked hyper-IgM syndrome CD40 Ligand 147205-72-9
Beschreibung
Zusammenfassung:Copyright © 2018 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 27.08.2019
Date Revised 09.01.2021
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2018.07.013