A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa : original article

A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetic...

Full description

Saved in:
Bibliographic Details
Published inSouth African medical journal Vol. 101; no. 10; pp. 768 - 769
Main Authors Nuttall, J., Pienaar, S., Le Roux, D.M., Chan, K.W., Eley, B.S., Lau, Y.L., Naidoo, R.
Format Journal Article
LanguageEnglish
Published Health and Medical Publishing Group (HMPG) 01.10.2011
Online AccessGet full text

Cover

Abstract A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.
AbstractList A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.
Author Chan, K.W.
Lau, Y.L.
Le Roux, D.M.
Nuttall, J.
Pienaar, S.
Naidoo, R.
Eley, B.S.
Author_xml – sequence: 1
  givenname: J.
  surname: Nuttall
  fullname: Nuttall, J.
– sequence: 2
  givenname: S.
  surname: Pienaar
  fullname: Pienaar, S.
– sequence: 3
  givenname: D.M.
  surname: Le Roux
  fullname: Le Roux, D.M.
– sequence: 4
  givenname: K.W.
  surname: Chan
  fullname: Chan, K.W.
– sequence: 5
  givenname: B.S.
  surname: Eley
  fullname: Eley, B.S.
– sequence: 6
  givenname: Y.L.
  surname: Lau
  fullname: Lau, Y.L.
– sequence: 7
  givenname: R.
  surname: Naidoo
  fullname: Naidoo, R.
BookMark eNqNjc1Kw0AUhQdpwVT7DnfhNjBJO4l114aKuK0bV2E6vUmuTO7I_CiufXFH8AFcHc7h4zsrsWDHeCWKWrb3pao2aiEKWaum3Kl2ey1WIbzJ3NWuKcT3Hth9oIXu9XCAOUUdyTF8UpwgTggD-RBhRMZIRlv7BcZxHme8gNEBwQ1gJu-YDIxec7Ju1tGlABcK-AsQw8mlrNsPPivgAZynkVhb0D5LLd6K5aBtwPVf3oi7x-NL91QGfaZ83AeN7-ncV1LVsj8-d027rdTmn9gPdzxTzg
ContentType Journal Article
DatabaseTitleList
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 2078-5135
EndPage 769
ExternalDocumentID 10520/EJC67415
GroupedDBID ---
-OY
123
1RG
4JU
53G
5RE
5VS
6SC
AAFWJ
AAWTL
ADBBV
AENEX
ALMA_UNASSIGNED_HOLDINGS
AZFZN
BAWUL
BCNDV
DIK
EBS
EJD
EMOBN
F5P
FRP
GROUPED_DOAJ
GX1
IAO
IHR
IHW
INH
INR
ITC
JRA
KWQ
L7B
MK0
OK1
P2P
RFP
RNS
SV3
SWNBY
TR2
W2D
ID FETCH-sabinet_saepub_10520_EJC674153
IEDL.DBID JRA
ISSN 0256-9574
IngestDate Wed Apr 10 05:20:22 EDT 2024
IsPeerReviewed true
IsScholarly true
Issue 10
Language English
LinkModel DirectLink
MergedId FETCHMERGED-sabinet_saepub_10520_EJC674153
ParticipantIDs sabinet_saepub_10520_EJC67415
PublicationCentury 2000
PublicationDate 20111001
PublicationDateYYYYMMDD 2011-10-01
PublicationDate_xml – month: 10
  year: 2011
  text: 20111001
  day: 01
PublicationDecade 2010
PublicationTitle South African medical journal
PublicationYear 2011
Publisher Health and Medical Publishing Group (HMPG)
Publisher_xml – name: Health and Medical Publishing Group (HMPG)
SSID ssj0025596
ssib022775494
ssib045324610
ssib005229541
Score 3.8636134
Snippet A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is...
SourceID sabinet
SourceType Publisher
StartPage 768
Title A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa : original article
URI http://hdl.handle.net/10520/EJC67415
Volume 101
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV1NS8NAEB1qRfEifuJXyxx6DSbZ3aT1lobWUqgHUYinkGw2UmgTsI3g2T_ubD6MeNBrAlmyO_De7My8BzBwzZg7jHMjcSQlKJHtGrFQyogiPkxTU8hI6Qv9xYMze-bzQAQdaBwFf8kLWLpL43Yy9x23nCTfJTQXpUL-o9dGkXakbkHdtrWoWxtlXDCtmWZ-p2HEocsKJoG9MRK6029Pq9nSej-QZXoEhzUlRK86w2PoqOwE9hd10fsUPj3M8ne1Qv9lPMZ1URXPUd-gItE3TJfE4JACoZpHXH0g5bj0kHAOJYEU5inKSgMXXwmailW-1k7oG6yrM7jMsLTSw8o1CO-w8cvCOrLOYDCdPPkzo_6HcBPpabqw3Lqw2Tp2Dt0sz9QFIOMi5lIkTGdiqRTDkcYnlhCvsWxHppfQ-_NTV_-8v4YDu-mTs26gu30rVI-Aexv3Yec-sPrl6X0BxhWXTg
link.rule.ids 315,783,787,39254
linkProvider Sabinet Online Ltd.
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=A+novel+CYBB+mutation+with+the+first+genetically+confirmed+case+of+chronic+granulomatous+disease+in+South+Africa+%3A+original+article&rft.jtitle=South+African+medical+journal&rft.au=Nuttall%2C+J.&rft.au=Pienaar%2C+S.&rft.au=Le+Roux%2C+D.M.&rft.au=Chan%2C+K.W.&rft.date=2011-10-01&rft.pub=Health+and+Medical+Publishing+Group+%28HMPG%29&rft.issn=0256-9574&rft.eissn=2078-5135&rft.volume=101&rft.issue=10&rft.spage=768&rft.epage=769&rft.externalDocID=10520%2FEJC67415
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0256-9574&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0256-9574&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0256-9574&client=summon