Literature DB >> 32196641

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

Francesco Saettini1, Alessandro Cattoni1, Mariella D'Angio'1, Paola Corti1, Silvia Maitz2, Fabio Pagni3, Davide Seminati3, Laura Pezzoli4, Maria Iascone4, Andrea Biondi1, Sonia Bonanomi1.   

Abstract

Entities:  

Keywords:  SRP54; Shwachman-Diamond syndrome; inborn error of immunity; severe congenital neutropenia

Mesh：

Substances：

Year:  2020        PMID： 32196641     DOI： 10.1111/bjh.16585

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  4 in total

1.  Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Authors:  Joseph H Oved; Daria V Babushok; Michele P Lambert; Nicole Wolfset; M Anna Kowalska; Mortimer Poncz; Konrad J Karczewski; Timothy S Olson
Journal:  Blood Adv       Date:  2020-10-27

2.  Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Authors:  Francesco Saettini; Cecilia Poli; Jaime Vengoechea; Sonia Bonanomi; Julio C Orellana; Grazia Fazio; Fred H Rodriguez; Loreani P Noguera; Claire Booth; Valentina Jarur-Chamy; Marissa Shams; Maria Iascone; Maja Vukic; Serena Gasperini; Manuel Quadri; Amairelys Barroeta Seijas; Elizabeth Rivers; Mario Mauri; Raffaele Badolato; Gianni Cazzaniga; Cristina Bugarin; Giuseppe Gaipa; Wilma G M Kroes; Daniele Moratto; Monique M van Oostaijen-Ten Dam; Frank Baas; Silvère van der Maarel; Rocco Piazza; Zeynep H Coban-Akdemir; James R Lupski; Bo Yuan; Ivan K Chinn; Lucia Daxinger; Andrea Biondi
Journal:  Blood       Date:  2021-01-28       Impact factor: 22.113

3.  Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.

Authors:  Francesco Saettini; Grazia Fazio; Daniele Moratto; Marta Galbiati; Nicola Zucchini; Davide Ippolito; Marco Emilio Dinelli; Luisa Imberti; Mario Mauri; Maria Luisa Melzi; Sonia Bonanomi; Alessio Gerussi; Marinella Pinelli; Chiara Barisani; Cristina Bugarin; Marco Chiarini; Mauro Giacomelli; Rocco Piazza; Giovanni Cazzaniga; Pietro Invernizzi; Silvia Clara Giliani; Raffaele Badolato; Andrea Biondi
Journal:  Front Immunol       Date:  2021-04-16       Impact factor: 7.561

4.  Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Authors:  Melinda Erdős; Oksana Boyarchuk; László Maródi
Journal:  Front Immunol       Date:  2022-09-08       Impact factor: 8.786
  4 in total

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