Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

Author:

Donadieu Jean1ORCID,Beaupain Blandine1,Fenneteau Odile2,Bellanné-Chantelot Christine3

Affiliation:

1. Service d'Hémato Oncologie Pédiatrique; Registre des neutropénies congénitales; AP-HP Hopital Trousseau; Paris France

2. Laboratoire d'Hématologie; AP-HP Hôpital S Robert Debré; Paris France

3. Département de Génétique; AP-HP Hôpital Pitié-Salpêtrière; UPMC Univ Paris 06; Paris France

Funder

Amgen

Chugai Pharmaceutical

GIS Maladies Rares

Institut de veille sanitaire

Institut National de la Santé et de la Recherche Médicale

Association Laurette Fugain

Publisher

Wiley

Subject

Hematology

Reference98 articles.

1. The phenotype of human STK4 deficiency;Abdollahpour;Blood,2012

2. Neutropenia associated with X-linked Agammaglobulinemia in an Iranian referral center;Aghamohammadi;Iranian Journal of Allergy, Asthma, and Immunology,2009

3. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits;Auer;Nature Genetics,2014

4. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome;Badolato;Journal of Pediatrics,2012

5. The chemokine SDF-1/CXCL12 binds to and signals through the orphan receptor RDC1 in T lymphocytes;Balabanian;Journal of Biological Chemistry,2005

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