Citations for
1NSC8, SRP54
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome
Saettini F, Cattoni A, D'Angio' M, Corti P, Maitz S, Pagni F, Seminati D, Pezzoli L, Iascone M, Biondi A, Bonanomi S.
Br J Haematol. May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20 2020
2NSC8, SRP54
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J.
Blood. Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18 2018
3NSC8, SRP54
SRP54 and a need for a new neutropenia nosology. Blood. 2018 PMID:
Oyarbide U, Corey SJ.
Blood Sep 20;132(12):1220-1222. doi: 10.1182/blood-2018-07-859959. 2018
4NSC8, SRP54
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.
J Clin Invest. Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3. 2017