EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic
Neutropenia.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Donadieu J et al. Br J Haematol. 2017 Sep 6.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry. Bejjani N et al. Pediatr Blood Cancer. 2017 Jul 20.

Les neutropénies sévères idiopathiques ou primitives de l’adulte sont des entités rares, cette collaboration nationale nous a permis de mieux comprendre l’histoire naturelle de ce syndrome. De nombreuses interrogations persistent cependant, en particulier pour identifier les patients qui présenteront des complications infectieuses et guider la prise en charge thérapeutique: Severe chronic primary neutropenia in adults: report on a series 108 patients, Blood First Edition Paper, prepublished online August 10, 2015.
L’enregistrement de ces patients est impératif, si possible dès le diagnostic suspecté, afin de poursuivre cette étude et d’améliorer leur prise en charge. Pour tout renseignement contactez le Dr Flore Sicre de Fontbrune (flore.sicre-de-fontbrune@aphp.fr) ou le Dr jean Donnadieu (jean.donadieu@aphp.fr).  

Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation.
 
Severe chronic primary neutropenia in adults: report on a series of 108 patients.
 
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.