Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like syndrome-Reference-Cited by-同舟云学术

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like syndrome

Published:2020-03-20 Issue:4 Volume:189 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Saettini Francesco¹^ORCID,Cattoni Alessandro¹,D’Angio’ Mariella¹,Corti Paola¹,Maitz Silvia²,Pagni Fabio³,Seminati Davide³,Pezzoli Laura⁴,Iascone Maria⁴,Biondi Andrea¹,Bonanomi Sonia¹

Affiliation:

1. Department of Pediatrics Fondazione MBBM University of Milano‐Bicocca Monza Italy

2. Clinical Pediatric Genetic Unit Pediatric Clinic Fondazione MBBM San Gerardo Hospital Monza Italy

3. Department of Medicine and Surgery, Pathology San Gerardo Hospital University of Milano‐ Bicocca Monza Italy

4. Molecular Genetics Laboratory USSD LGM Papa Giovanni XXIII Hospital Bergamo Italy

Funder

RARE project - Rapid Analysis for Rapid care

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16585

Reference9 articles.

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

2. Congenital neutropenia and primary immunodeficiency diseases

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

4. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

5. Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution

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