Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

被引：56

作者：

Badolato, Raffaele ^{[1
,2
]}

Prandini, Alberto ^{[1
,2
,3
]}

Caracciolo, Sonia ^{[1
,2
]}

Colombo, Francesca ^{[1
,2
]}

Tabellini, Giovanna ^{[4
]}

Giacomelli, Mauro ^{[1
,2
,3
]}

Cantarini, Maria E. ^{[5
]}

Pession, Andrea ^{[5
]}

Bell, Callum J. ^{[6
]}

Dinwiddie, Darrell L. ^{[7
]}

Miller, Neil A. ^{[7
]}

Hateley, Shannon L. ^{[6
]}

Saunders, Carol J. ^{[7
]}

Zhang, Lu ^{[8
]}

Schroth, Gary P. ^{[8
]}

Plebani, Alessandro ^{[1
,2
]}

Parolini, Silvia ^{[4
]}

Kingsmore, Stephen F. ^{[7
]}

机构：

[1] Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

[2] Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy

[3] Univ Trieste, Scuola Dottorato Sci Riprod & Sviluppo, Trieste, Italy

[4] Univ Brescia, Dipartimento Sci Biomed & Biotecnol, I-25123 Brescia, BS, Italy

[5] Univ Bologna, Div Oncoematol Pediat & Terapia Cellulare, Bologna, Italy

[6] Natl Ctr Genome Resources, Santa Fe, NM USA

[7] Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

[8] Illumina Inc, Hayward, CA USA

来源：

BLOOD | 2012年 / 119卷 / 13期

关键词：

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; ADAPTER; PROTEINS; PLDN; GENE; AP-3;

D O I：

10.1182/blood-2012-01-404350

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：3185 / 3187

页数：5

共 12 条

[1] Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing [J].

Bell, Callum J. ;

Dinwiddie, Darrell L. ;

Miller, Neil A. ;

Hateley, Shannon L. ;

Ganusova, Elena E. ;

Mudge, Joann ;

Langley, Ray J. ;

Zhang, Lu ;

Lee, Clarence C. ;

Schilkey, Faye D. ;

Sheth, Vrunda ;

Woodward, Jimmy E. ;

Peckham, Heather E. ;

Schroth, Gary P. ;

Kim, Ryan W. ;

Kingsmore, Stephen F. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (65)

[2] Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse [J].

Clark, RH ;

Stinchcombe, JC ;

Day, A ;

Blott, E ;

Booth, S ;

Bossi, G ;

Hamblin, T ;

Davies, EG ;

Griffiths, GM .

NATURE IMMUNOLOGY, 2003, 4 (11) :1111-1120

[3] RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9 (Retracted article. See vol. 100, pg. 837, 2017) [J].

Cullinane, Andrew R. ;

Curry, James A. ;

Carmona-Rivera, Carmelo ;

Summers, C. Gail ;

Ciccone, Carla ;

Cardillo, Nicholas D. ;

Dorward, Heidi ;

Hess, Richard A. ;

White, James G. ;

Adams, David ;

Huizing, Marjan ;

Gahl, William A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (06) :778-787

[4] Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor [J].

Dell'Angelica, EC ;

Shotelersuk, V ;

Aguilar, RC ;

Gahl, WA ;

Bonifacino, JS .

MOLECULAR CELL, 1999, 3 (01) :11-21

[5] Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II [J].

Enders, Anselm ;

Zieger, Barbara ;

Schwarz, Klaus ;

Yoshimi, Ayami ;

Speckmann, Carsten ;

Knoepfle, Eva-Maria ;

Kontny, Udo ;

Mueller, Christoph ;

Nurden, Alan ;

Rohr, Jan ;

Henschen, Matthias ;

Pannicke, Ulrich ;

Niemeyer, Charlotte ;

Nurden, Paquita ;

Ehl, Stephan .

BLOOD, 2006, 108 (01) :81-87

[6] The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis [J].

Falcón-Pérez, JM ;

Dell'Angelica, EC .

PIGMENT CELL RESEARCH, 2002, 15 (02) :82-86

[7] The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency [J].

Huang, LP ;

Kuo, YM ;

Gitschier, J .

NATURE GENETICS, 1999, 23 (03) :329-332

[8] Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis [J].

Moretta, A ;

Bottino, C ;

Vitale, M ;

Pende, D ;

Cantoni, C ;

Mingari, MC ;

Biassoni, R ;

Moretta, L .

ANNUAL REVIEW OF IMMUNOLOGY, 2001, 19 :197-223

[9] Neutrophils activate macrophages for intracellular killing of Leishmania major through recruitment of TLR4 by neutrophil elastase [J].

Ribeiro-Gomes, Flavia L. ;

Moniz-De-Souza, Maria Carolina A. ;

Alexandre-Moreira, Magna S. ;

Dias, Wagner B. ;

Lopes, Marcela F. ;

Nunes, Marise P. ;

Lungarella, Giuseppe ;

DosReis, George A. .

JOURNAL OF IMMUNOLOGY, 2007, 179 (06) :3988-3994

[10] Role of adaptor complex AP-3 in targeting wild-type and mutated CD63 to lysosomes [J].

Rous, BA ;

Reaves, BJ ;

Ihrke, G ;

Briggs, JAG ;

Gray, SR ;

Stephens, DJ ;

Banting, G ;

Luzio, JP .

MOLECULAR BIOLOGY OF THE CELL, 2002, 13 (03) :1071-1082

← 1 2 →