A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

Copyright © 2019 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 200(2019) vom: 08. März, Seite 31-34
1. Verfasser: Lougaris, Vassilios (VerfasserIn)
Weitere Verfasser: Baronio, Manuela, Moratto, Daniele, Tampella, Giacomo, Gazzurelli, Luisa, Facchetti, Mattia, Martire, Baldassarre, Cardinale, Fabio, Lanzarotto, Francesco, Bondioni, Maria Pia, Villanacci, Vincenzo, Grimbacher, Bodo, Plebani, Alessandro
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, Non-U.S. Gov't APDS-1 B cells Bone marrow Hypogammaglobulinemia T cells p110δ Class I Phosphatidylinositol 3-Kinases mehr... EC 2.7.1.137 PIK3CD protein, human
LEADER 01000naa a22002652 4500
001 NLM292673019
003 DE-627
005 20231225073630.0
007 cr uuu---uuuuu
008 231225s2019 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.clim.2019.01.003  |2 doi 
028 5 2 |a pubmed24n0975.xml 
035 |a (DE-627)NLM292673019 
035 |a (NLM)30639166 
035 |a (PII)S1521-6616(18)30664-8 
040 |a DE-627  |b ger  |c DE-627  |e rakwb 
041 |a eng 
100 1 |a Lougaris, Vassilios  |e verfasserin  |4 aut 
245 1 2 |a A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1) 
264 1 |c 2019 
336 |a Text  |b txt  |2 rdacontent 
337 |a ƒaComputermedien  |b c  |2 rdamedia 
338 |a ƒa Online-Ressource  |b cr  |2 rdacarrier 
500 |a Date Completed 31.12.2019 
500 |a Date Revised 31.12.2019 
500 |a published: Print-Electronic 
500 |a Citation Status MEDLINE 
520 |a Copyright © 2019 Elsevier Inc. All rights reserved. 
520 |a This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans 
650 4 |a Case Reports 
650 4 |a Letter 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a APDS-1 
650 4 |a B cells 
650 4 |a Bone marrow 
650 4 |a Hypogammaglobulinemia 
650 4 |a T cells 
650 4 |a p110δ 
650 7 |a Class I Phosphatidylinositol 3-Kinases  |2 NLM 
650 7 |a EC 2.7.1.137  |2 NLM 
650 7 |a PIK3CD protein, human  |2 NLM 
650 7 |a EC 2.7.1.137  |2 NLM 
700 1 |a Baronio, Manuela  |e verfasserin  |4 aut 
700 1 |a Moratto, Daniele  |e verfasserin  |4 aut 
700 1 |a Tampella, Giacomo  |e verfasserin  |4 aut 
700 1 |a Gazzurelli, Luisa  |e verfasserin  |4 aut 
700 1 |a Facchetti, Mattia  |e verfasserin  |4 aut 
700 1 |a Martire, Baldassarre  |e verfasserin  |4 aut 
700 1 |a Cardinale, Fabio  |e verfasserin  |4 aut 
700 1 |a Lanzarotto, Francesco  |e verfasserin  |4 aut 
700 1 |a Bondioni, Maria Pia  |e verfasserin  |4 aut 
700 1 |a Villanacci, Vincenzo  |e verfasserin  |4 aut 
700 1 |a Grimbacher, Bodo  |e verfasserin  |4 aut 
700 1 |a Plebani, Alessandro  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 200(2019) vom: 08. März, Seite 31-34  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
773 1 8 |g volume:200  |g year:2019  |g day:08  |g month:03  |g pages:31-34 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2019.01.003  |3 Volltext 
912 |a GBV_USEFLAG_A 
912 |a SYSFLAG_A 
912 |a GBV_NLM 
912 |a GBV_ILN_11 
912 |a GBV_ILN_24 
912 |a GBV_ILN_350 
951 |a AR 
952 |d 200  |j 2019  |b 08  |c 03  |h 31-34