Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

Ottavia M. Delmonte; Fabian Baldin; Nadia Ovchinsky; Florian Marquardsen; Mike Recher; Luigi D. Notarangelo; Slawomir M. Kosinski

doi:10.1007/s10875-019-00715-3

Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

Ottavia M. Delmonte, Fabian Baldin, Nadia Ovchinsky, Florian Marquardsen, Mike Recher, Luigi D. Notarangelo, Slawomir M. Kosinski

Pediatrics

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

Original language	English (US)
Pages (from-to)	236-239
Number of pages	4
Journal	Journal of Clinical Immunology
Volume	40
Issue number	1
DOIs	https://doi.org/10.1007/s10875-019-00715-3
State	Published - Jan 1 2020

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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10.1007/s10875-019-00715-3

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title = "Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD",

author = "Delmonte, {Ottavia M.} and Fabian Baldin and Nadia Ovchinsky and Florian Marquardsen and Mike Recher and Notarangelo, {Luigi D.} and Kosinski, {Slawomir M.}",

note = "Funding Information: This work was contributed by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA. Funding Information: This work was contributed by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA.",

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doi = "10.1007/s10875-019-00715-3",

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T1 - Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

AU - Delmonte, Ottavia M.

AU - Baldin, Fabian

AU - Ovchinsky, Nadia

AU - Marquardsen, Florian

AU - Recher, Mike

AU - Notarangelo, Luigi D.

AU - Kosinski, Slawomir M.

N1 - Funding Information: This work was contributed by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA. Funding Information: This work was contributed by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA.

PY - 2020/1/1

Y1 - 2020/1/1

UR - http://www.scopus.com/inward/record.url?scp=85075060504&partnerID=8YFLogxK

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U2 - 10.1007/s10875-019-00715-3

DO - 10.1007/s10875-019-00715-3

M3 - Letter

C2 - 31721003

AN - SCOPUS:85075060504

SN - 0271-9142

VL - 40

SP - 236

EP - 239

JO - Journal of Clinical Immunology

JF - Journal of Clinical Immunology

IS - 1

ER -

Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

ASJC Scopus subject areas

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