Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome-Reference-Cited by-同舟云学术

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

Published:2012-03-29 Issue:13 Volume:119 Page:3185-3187
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Badolato Raffaele¹,Prandini Alberto²,Caracciolo Sonia¹,Colombo Francesca¹,Tabellini Giovanna³,Giacomelli Mauro²,Cantarini Maria E.⁴,Pession Andrea⁴,Bell Callum J.⁵,Dinwiddie Darrell L.⁶,Miller Neil A.⁶,Hateley Shannon L.⁵,Saunders Carol J.⁶,Zhang Lu⁷,Schroth Gary P.⁷,Plebani Alessandro¹,Parolini Silvia⁸,Kingsmore Stephen F.⁶

Affiliation:

1. Pediatric Clinic and “Angelo Nocivelli Institute of Molecular Medicine,” Università di Brescia, Brescia, Italy

2. Pediatric Clinic and “Angelo Nocivelli Institute of Molecular Medicine,” Università di Brescia, Brescia, and Scuola di Dottorato in Scienza della riproduzione e dello sviluppo, Università di Trieste Trieste, Italy

3. Dipartimento di Scienze Biomediche e Biotecnologie, Università di Brescia, Brescia, Italy

4. Divisione di Onco-ematologia Pediatrica e Terapia Cellulare, Università di Bologna, Bologna, Italy

5. National Center for Genome Resources, Santa Fe, NM

6. Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO

7. Illumina Inc, Hayward, CA

8. Diparimento di Scienze Biomediche e Biotechnologie, Universita di Brescia, Brescia, Italy

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/119/13/3185/1349899/zh801312003185.pdf

Reference13 articles.

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2. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.;Dell'Angelica;Mol Cell,1999

3. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.;Clark;Nat Immunol,2003

4. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.;Enders;Blood,2006

5. A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis.;Wheeler;Br J Haematol,2010

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