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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2018.07.013
|2 doi
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|a pubmed24n0956.xml
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|a (DE-627)NLM286934027
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|a (NLM)30053428
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|a (PII)S1521-6616(18)30315-2
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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|a Rawat, Amit
|e verfasserin
|4 aut
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|a Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India
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|c 2018
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 27.08.2019
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|a Date Revised 09.01.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2018 Elsevier Inc. All rights reserved.
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|a 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
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a CD40 ligand
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|a Immunoglobulin class switching
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|a Mycobacterium sp.
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|a Neutropenia
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|a Pulmonary alveolar proteinosis
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|a X-linked hyper-IgM syndrome
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|a CD40 Ligand
|2 NLM
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|a 147205-72-9
|2 NLM
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|a Mathew, Babu
|e verfasserin
|4 aut
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|a Pandiarajan, Vignesh
|e verfasserin
|4 aut
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|a Jindal, Ankur
|e verfasserin
|4 aut
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|a Sharma, Madhubala
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|4 aut
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|a Suri, Deepti
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|4 aut
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|a Gupta, Anju
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|a Goel, Shubham
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|a Karim, Adil
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|4 aut
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|a Saikia, Biman
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|4 aut
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|a Minz, Ranjana W
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|4 aut
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|a Imai, Kohsuke
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|4 aut
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|a Nonoyama, Shigeaki
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|4 aut
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|a Ohara, Osamu
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|4 aut
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|a Giliani, Silvia Clara
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|4 aut
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|a Notarangelo, Luigi D
|e verfasserin
|4 aut
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|a Chan, Koon-Wing
|e verfasserin
|4 aut
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|a Lau, Yu-Lung
|e verfasserin
|4 aut
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|a Singh, Surjit
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 195(2018) vom: 26. Okt., Seite 59-66
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:195
|g year:2018
|g day:26
|g month:10
|g pages:59-66
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|u http://dx.doi.org/10.1016/j.clim.2018.07.013
|3 Volltext
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