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

Affiliations

Barbara Schmaltz-Panneau

INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;

Anne Pagnier

Department of Pediatric Hematology and Oncology, CHU Grenoble Alpes, Grenoble, France;

Séverine Clauin

Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Paris, France;

Julien Buratti

Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Paris, France;

Caroline Marty

INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;

Odile Fenneteau

Laboratory of Hematology, Robert Debré Hospital - Université de Paris, France;

Klaus Dieterich

Department of Medical Genetics, Univ. Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, Grenoble;

Blandine Beaupain

French Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France;

Jean Donadieu

Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France;

Isabelle Plo

INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;

Christine Bellanné-Chantelot

Dept of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France