IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections

Amy P. Hsu; Christa S. Zerbe; Ladan Foruraghi; Nicole M. Iovine; Jennifer W. Leiding; David M. Mushatt; Laurianne Wild; Douglas B. Kuhns; Steven M. Holland

doi:10.1093/cid/ciy186

IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections

Amy P. Hsu
, Christa S. Zerbe
, Ladan Foruraghi
, Nicole M. Iovine
, Jennifer W. Leiding
, David M. Mushatt
, Laurianne Wild
, Douglas B. Kuhns
, Steven M. Holland

Research output: Contribution to journal › Article › peer-review

Abstract

Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.

Original language	English (US)
Pages (from-to)	456-459
Number of pages	4
Journal	Clinical Infectious Diseases
Volume	67
Issue number	3
DOIs	https://doi.org/10.1093/cid/ciy186
State	Published - Jul 18 2018
Externally published	Yes

Keywords

IKBKG
mycobacteria
NEMO, 5
untranslated region

ASJC Scopus subject areas

Microbiology (medical)
Infectious Diseases

Access to Document

10.1093/cid/ciy186

Cite this

@article{9f17f667bfb946cb8a7b3cb2a2542980,

title = "IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections",

abstract = "Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.",

keywords = "IKBKG, mycobacteria, NEMO, 5, untranslated region",

author = "Hsu, \{Amy P.\} and Zerbe, \{Christa S.\} and Ladan Foruraghi and Iovine, \{Nicole M.\} and Leiding, \{Jennifer W.\} and Mushatt, \{David M.\} and Laurianne Wild and Kuhns, \{Douglas B.\} and Holland, \{Steven M.\}",

note = "Publisher Copyright: {\textcopyright} Published by Oxford University Press for the Infectious Diseases Society of America 2018.",

year = "2018",

month = jul,

day = "18",

doi = "10.1093/cid/ciy186",

language = "English (US)",

volume = "67",

pages = "456--459",

journal = "Clinical Infectious Diseases",

issn = "1058-4838",

publisher = "Oxford University Press",

number = "3",

}

TY - JOUR

T1 - IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections

AU - Hsu, Amy P.

AU - Zerbe, Christa S.

AU - Foruraghi, Ladan

AU - Iovine, Nicole M.

AU - Leiding, Jennifer W.

AU - Mushatt, David M.

AU - Wild, Laurianne

AU - Kuhns, Douglas B.

AU - Holland, Steven M.

N1 - Publisher Copyright: © Published by Oxford University Press for the Infectious Diseases Society of America 2018.

PY - 2018/7/18

Y1 - 2018/7/18

N2 - Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.

AB - Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.

KW - IKBKG

KW - mycobacteria

KW - NEMO, 5

KW - untranslated region

UR - https://www.scopus.com/pages/publications/85050862697

UR - https://www.scopus.com/pages/publications/85050862697#tab=citedBy

U2 - 10.1093/cid/ciy186

DO - 10.1093/cid/ciy186

M3 - Article

C2 - 29534156

AN - SCOPUS:85050862697

SN - 1058-4838

VL - 67

SP - 456

EP - 459

JO - Clinical Infectious Diseases

JF - Clinical Infectious Diseases

IS - 3

ER -

IKBKG (NEMO) 5′ untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this