Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobul...
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
About this item
Full title
Author / Creator
Saettini, Francesco , Guerra, Fabiola , Mauri, Mario , Salter, Claire G. , Adam, Margaret P. , Adams, David , Baple, Emma L. , Barredo, Estibaliz , Bhatia, Sanil , Borkhardt, Arndt , Brusco, Alfredo , Bugarin, Cristina , Chinello, Clizia , Crosby, Andrew H. , D’Souza, Precilla , Denti, Vanna , Fazio, Grazia , Giuliani, Silvia , Kuehn, Hye Sun , Amel, Hassan , Elmi, Asha , Lo, Bernice , Malighetti, Federica , Mandrile, Giorgia , Martín-Nalda, Andrea , Mefford, Heather C. , Moratto, Daniele , Emam Mousavi, Fatemeh , Nelson, Zoe , Gutiérrez-Solana, Luis González , Macnamara, Ellen , Michaud, Vincent , O’Leary, Melanie , Pagani, Lisa , Pavinato, Lisa , Santamaria, Patricia VVelez , Planas-Serra, Laura , Quadri, Manuel , Raspall-Chaure, Miquel , Rebellato, Stefano , Rosenzweig, Sergio D. , Roubertie, Agathe , Holzinger, Dirk , Deal, Christin , Vockley, Catherine Walsh , Savino, Angela Maria , L.Stoddard, Jennifer , Uhlig, Holm H. , Pujol, Aurora , Magni, Fulvio , Paglia, Giuseppe , Cazzaniga, Gianni , Piazza, Rocco , Barberis, Matteo and Biondi, Andrea
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (a...
Alternative Titles
Full title
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Authors, Artists and Contributors
Author / Creator
Guerra, Fabiola
Mauri, Mario
Salter, Claire G.
Adam, Margaret P.
Adams, David
Baple, Emma L.
Barredo, Estibaliz
Bhatia, Sanil
Borkhardt, Arndt
Brusco, Alfredo
Bugarin, Cristina
Chinello, Clizia
Crosby, Andrew H.
D’Souza, Precilla
Denti, Vanna
Fazio, Grazia
Giuliani, Silvia
Kuehn, Hye Sun
Amel, Hassan
Elmi, Asha
Lo, Bernice
Malighetti, Federica
Mandrile, Giorgia
Martín-Nalda, Andrea
Mefford, Heather C.
Moratto, Daniele
Emam Mousavi, Fatemeh
Nelson, Zoe
Gutiérrez-Solana, Luis González
Macnamara, Ellen
Michaud, Vincent
O’Leary, Melanie
Pagani, Lisa
Pavinato, Lisa
Santamaria, Patricia VVelez
Planas-Serra, Laura
Quadri, Manuel
Raspall-Chaure, Miquel
Rebellato, Stefano
Rosenzweig, Sergio D.
Roubertie, Agathe
Holzinger, Dirk
Deal, Christin
Vockley, Catherine Walsh
Savino, Angela Maria
L.Stoddard, Jennifer
Uhlig, Holm H.
Pujol, Aurora
Magni, Fulvio
Paglia, Giuseppe
Cazzaniga, Gianni
Piazza, Rocco
Barberis, Matteo
Biondi, Andrea
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_04956851v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_04956851v1
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-024-01793-8
