Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Vicente García-Patos Briones; Ramón M Pujol Vallverdú; Pere Soler-Palacín; Roger Colobrán Oriol; Andrea Martín-Nalda; Claudia Fortuny Guasch; Lourdes Rey; Tom D. Bunney; Laia Alsina Manrique; Ana Esteve-Solé; Daniel Bull; Maria Carmen Anton; Maria Basagaña; Ferran Casals; Ángela Deyà-Martínez; Marina Garcia-Prat; Ramon Gimeno; Manel Juan; Helios Martinez-Banaclocha; Juan J. Martinez-Garcia; Anna Mensa-Vilaró; Raquel Rabionet; Nieves Martin-Begue; Francesc Rudilla; Xavier Estivill; Matilda Katan; Pablo Pelegrín; Asun Vicente; Juan Ignacio Aróstegui

doi:10.1007/s10875-020-00794-7

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Vicente García-Patos Briones, Ramón M Pujol Vallverdú, Pere Soler-Palacín, Roger Colobrán Oriol, Andrea Martín-Nalda, Claudia Fortuny Guasch, Lourdes Rey, Tom D. Bunney, Laia Alsina Manrique, Ana Esteve-Solé, Daniel Bull, Maria Carmen Anton, Maria Basagaña, Ferran Casals, Ángela Deyà-Martínez, Marina Garcia-Prat, Ramon Gimeno, Manel Juan, Helios Martinez-Banaclocha, Juan J. Martinez-GarciaAnna Mensa-Vilaró, Raquel Rabionet, Nieves Martin-Begue, Francesc Rudilla, Xavier Estivill, Matilda Katan, Pablo Pelegrín, Asun Vicente, Juan Ignacio Aróstegui

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

30 Citations (Scopus)

Abstract

The online version of this article (10.1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.

Original language	English
Pages (from-to)	987-1000
Number of pages	14
Journal	Journal of Clinical Immunology
Volume	40
DOIs	https://doi.org/10.1007/s10875-020-00794-7
Publication status	Published - 2020

Keywords

Autoinflammatory diseases
APLAID
PLCγ2
Inflammasome
Caspase-1
Interleukin-1
Agammaglobulinemia

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10.1007/s10875-020-00794-7

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García-Patos Briones, V., Pujol Vallverdú, R. M., Soler-Palacín, P., Colobrán Oriol, R., Martín-Nalda, A., Fortuny Guasch, C., Rey, L., Bunney, T. D., Alsina Manrique, L., Esteve-Solé, A., Bull, D., Anton, M. C., Basagaña, M., Casals, F., Deyà-Martínez, Á., Garcia-Prat, M., Gimeno, R., Juan, M., Martinez-Banaclocha, H., ... Aróstegui, J. I. (2020). Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. Journal of Clinical Immunology, 40, 987-1000. https://doi.org/10.1007/s10875-020-00794-7

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title = "Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations",

abstract = "The online version of this article (10.1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.",

keywords = "Autoinflammatory diseases, APLAID, PLCγ2, Inflammasome, Caspase-1, Interleukin-1, Agammaglobulinemia",

author = "{Garc{\'i}a-Patos Briones}, Vicente and {Pujol Vallverd{\'u}}, {Ram{\'o}n M} and Pere Soler-Palac{\'i}n and {Colobr{\'a}n Oriol}, Roger and Andrea Mart{\'i}n-Nalda and {Fortuny Guasch}, Claudia and Lourdes Rey and Bunney, {Tom D.} and {Alsina Manrique}, Laia and Ana Esteve-Sol{\'e} and Daniel Bull and Anton, {Maria Carmen} and Maria Basaga{\~n}a and Ferran Casals and {\'A}ngela Dey{\`a}-Mart{\'i}nez and Marina Garcia-Prat and Ramon Gimeno and Manel Juan and Helios Martinez-Banaclocha and Martinez-Garcia, {Juan J.} and Anna Mensa-Vilar{\'o} and Raquel Rabionet and Nieves Martin-Begue and Francesc Rudilla and Xavier Estivill and Matilda Katan and Pablo Pelegr{\'i}n and Asun Vicente and Ar{\'o}stegui, {Juan Ignacio}",

year = "2020",

doi = "10.1007/s10875-020-00794-7",

language = "English",

volume = "40",

pages = "987--1000",

journal = "Journal of Clinical Immunology",

issn = "0271-9142",

publisher = "Springer New York",

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García-Patos Briones, V , Pujol Vallverdú, RM , Soler-Palacín, P , Colobrán Oriol, R, Martín-Nalda, A, Fortuny Guasch, C, Rey, L, Bunney, TD, Alsina Manrique, L, Esteve-Solé, A, Bull, D, Anton, MC, Basagaña, M, Casals, F, Deyà-Martínez, Á, Garcia-Prat, M, Gimeno, R, Juan, M, Martinez-Banaclocha, H, Martinez-Garcia, JJ, Mensa-Vilaró, A, Rabionet, R, Martin-Begue, N, Rudilla, F, Estivill, X, Katan, M, Pelegrín, P, Vicente, A & Aróstegui, JI 2020, 'Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations', Journal of Clinical Immunology, vol. 40, pp. 987-1000. https://doi.org/10.1007/s10875-020-00794-7

TY - JOUR

T1 - Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

AU - García-Patos Briones, Vicente

AU - Pujol Vallverdú, Ramón M

AU - Soler-Palacín, Pere

AU - Colobrán Oriol, Roger

AU - Martín-Nalda, Andrea

AU - Fortuny Guasch, Claudia

AU - Rey, Lourdes

AU - Bunney, Tom D.

AU - Alsina Manrique, Laia

AU - Esteve-Solé, Ana

AU - Bull, Daniel

AU - Anton, Maria Carmen

AU - Basagaña, Maria

AU - Casals, Ferran

AU - Deyà-Martínez, Ángela

AU - Garcia-Prat, Marina

AU - Gimeno, Ramon

AU - Juan, Manel

AU - Martinez-Banaclocha, Helios

AU - Martinez-Garcia, Juan J.

AU - Mensa-Vilaró, Anna

AU - Rabionet, Raquel

AU - Martin-Begue, Nieves

AU - Rudilla, Francesc

AU - Estivill, Xavier

AU - Katan, Matilda

AU - Pelegrín, Pablo

AU - Vicente, Asun

AU - Aróstegui, Juan Ignacio

PY - 2020

Y1 - 2020

N2 - The online version of this article (10.1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.

AB - The online version of this article (10.1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.

KW - Autoinflammatory diseases

KW - APLAID

KW - PLCγ2

KW - Inflammasome

KW - Caspase-1

KW - Interleukin-1

KW - Agammaglobulinemia

U2 - 10.1007/s10875-020-00794-7

DO - 10.1007/s10875-020-00794-7

M3 - Article

C2 - 32671674

SN - 0271-9142

VL - 40

SP - 987

EP - 1000

JO - Journal of Clinical Immunology

JF - Journal of Clinical Immunology

ER -

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Abstract

Keywords

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