Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Barbara Schmaltz-Panneau; Anne Pagnier; Séverine Clauin; Julien Buratti; Caroline Marty; Odile Fenneteau; Klaus Dieterich; Blandine Beaupain; Jean Donadieu; Isabelle Plo; Christine Bellanné-Chantelot

doi:10.3324/haematol.2020.247825

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Barbara Schmaltz-Panneau, Anne Pagnier, Séverine Clauin, Julien Buratti, Caroline Marty, Odile Fenneteau, Klaus Dieterich, Blandine Beaupain, Jean Donadieu, Isabelle Plo, Christine Bellanné-Chantelot

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

11 Citations (Scopus)

langue originale	Anglais
Pages (de - à)	1216-1219
Nombre de pages	4
journal	Haematologica
Volume	106
Numéro de publication	4
Les DOIs	https://doi.org/10.3324/haematol.2020.247825
état	Publié - 1 avr. 2021

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10.3324/haematol.2020.247825

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@article{8a16833e78aa417d938d08bae9aa45dc,

title = "Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia",

author = "Barbara Schmaltz-Panneau and Anne Pagnier and S{\'e}verine Clauin and Julien Buratti and Caroline Marty and Odile Fenneteau and Klaus Dieterich and Blandine Beaupain and Jean Donadieu and Isabelle Plo and Christine Bellann{\'e}-Chantelot",

note = "Funding Information: 1Gustave Roussy Cancer Center, INSERM U1287, Villejuif; 2Paris Saclay University, U1287, Villejuif; 3Department of Pediatric Hematology and Oncology, CHU Grenoble Alpes, Grenoble, GIN, Grenoble; 4AP-HP, Piti{\'e}-Salp{\^e}tri{\`e}re Hospital, DMU BioGeM, Department of Genetics, Sorbonne University, Paris;5AP-HP, Robert Debr{\'e} Hospital, Laboratory of Hematology, University of Paris, Paris; 6Department of Medical Genetics, Univsersity Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, GIN, Grenoble; 7French Registry of Chronic Neutropenia, Trousseau Hospital, Paris; 8Reference Center for Chronic Neutropenia, Paris and 9AP-HP, Trousseau Hospital, Department of Pediatric Hematology and Oncology, Paris, France Correspondence: CHRISTINE BELLANNE{\textquoteright}-CHANTELOT [email protected] doi:10.3324/haematol.2020.247825 Disclosures: no conflicts of interest to disclose Contributions: BSP performed most of the research and analyzed functional data; AP provided samples and clinical data; SC performed and analyzed molecular experiments; JB performed bioinformatics analysis; CM performed fibroblast culture and western blot; OF performed cytological analysis; KD provided samples and clinical data; BB collected clinical data; JD involved in the clinical part and contributed to intellectual input; IP designed the study, analyzed the data and critically reviewed the paper; CB-C designed the study, analyzed the data and wrote the paper. Acknowledgments: the authors would like to thank the family involved in the study. The authors also thank the Cytometry Platform (PFIC) of Gustave Roussy, especially Philippe Rameau and Yann Lecluse. Funding: the whole-exome sequencing was funded by the Foundation for rare diseases (AO9102LS) and the research was supported by grants from INCA-PLBIO 2017 (I Plo). The French Registry is supported by grants from X4 pharma, Prolong Pharma and Chugai SA to BB and JD.",

year = "2021",

month = apr,

day = "1",

doi = "10.3324/haematol.2020.247825",

language = "English",

volume = "106",

pages = "1216--1219",

journal = "Haematologica",

issn = "0390-6078",

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}

TY - JOUR

T1 - Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

AU - Schmaltz-Panneau, Barbara

AU - Pagnier, Anne

AU - Clauin, Séverine

AU - Buratti, Julien

AU - Marty, Caroline

AU - Fenneteau, Odile

AU - Dieterich, Klaus

AU - Beaupain, Blandine

AU - Donadieu, Jean

AU - Plo, Isabelle

AU - Bellanné-Chantelot, Christine

N1 - Funding Information: 1Gustave Roussy Cancer Center, INSERM U1287, Villejuif; 2Paris Saclay University, U1287, Villejuif; 3Department of Pediatric Hematology and Oncology, CHU Grenoble Alpes, Grenoble, GIN, Grenoble; 4AP-HP, Pitié-Salpêtrière Hospital, DMU BioGeM, Department of Genetics, Sorbonne University, Paris;5AP-HP, Robert Debré Hospital, Laboratory of Hematology, University of Paris, Paris; 6Department of Medical Genetics, Univsersity Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, GIN, Grenoble; 7French Registry of Chronic Neutropenia, Trousseau Hospital, Paris; 8Reference Center for Chronic Neutropenia, Paris and 9AP-HP, Trousseau Hospital, Department of Pediatric Hematology and Oncology, Paris, France Correspondence: CHRISTINE BELLANNE’-CHANTELOT [email protected] doi:10.3324/haematol.2020.247825 Disclosures: no conflicts of interest to disclose Contributions: BSP performed most of the research and analyzed functional data; AP provided samples and clinical data; SC performed and analyzed molecular experiments; JB performed bioinformatics analysis; CM performed fibroblast culture and western blot; OF performed cytological analysis; KD provided samples and clinical data; BB collected clinical data; JD involved in the clinical part and contributed to intellectual input; IP designed the study, analyzed the data and critically reviewed the paper; CB-C designed the study, analyzed the data and wrote the paper. Acknowledgments: the authors would like to thank the family involved in the study. The authors also thank the Cytometry Platform (PFIC) of Gustave Roussy, especially Philippe Rameau and Yann Lecluse. Funding: the whole-exome sequencing was funded by the Foundation for rare diseases (AO9102LS) and the research was supported by grants from INCA-PLBIO 2017 (I Plo). The French Registry is supported by grants from X4 pharma, Prolong Pharma and Chugai SA to BB and JD.

PY - 2021/4/1

Y1 - 2021/4/1

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DO - 10.3324/haematol.2020.247825

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SN - 0390-6078

VL - 106

SP - 1216

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JO - Haematologica

JF - Haematologica

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