Literature DB >> 24316408

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

Laura Dotta1, Raffaele Badolato2.   

Abstract

Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies.
Copyright © 2013 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  G6PC3 deficiency; GATA-2 deficiency; Primary immunodeficiency; SCID; STK4 deficiency; WHIM syndrome

Mesh:

Substances:

Year:  2013        PMID: 24316408     DOI: 10.1016/j.imlet.2013.11.018

Source DB:  PubMed          Journal:  Immunol Lett        ISSN: 0165-2478            Impact factor:   3.685


  5 in total

1.  Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

Authors:  Michaela Nováková; Markéta Žaliová; Martina Suková; Marcin Wlodarski; Aleš Janda; Eva Froňková; Vít Campr; Kateřina Lejhancová; Ondřej Zapletal; Dagmar Pospíšilová; Zdeňka Černá; Tomáš Kuhn; Peter Švec; Vendula Pelková; Zuzana Zemanová; Gitte Kerndrup; Marry van den Heuvel-Eibrink; Vincent van der Velden; Charlotte Niemeyer; Tomáš Kalina; Jan Trka; Jan Starý; Ondřej Hrušák; Ester Mejstříková
Journal:  Haematologica       Date:  2016-03-24       Impact factor: 9.941

Review 2.  Germline GATA2 Mutation and Bone Marrow Failure.

Authors:  Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-28       Impact factor: 3.722

Review 3.  Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Authors:  Sushree S Sahoo; Emilia J Kozyra; Marcin W Wlodarski
Journal:  Best Pract Res Clin Haematol       Date:  2020-07-29       Impact factor: 3.020

4.  Loss of human ICOSL results in combined immunodeficiency.

Authors:  Lucie Roussel; Marija Landekic; Makan Golizeh; Christina Gavino; Ming-Chao Zhong; Jun Chen; Denis Faubert; Alexis Blanchet-Cohen; Luc Dansereau; Marc-Antoine Parent; Sonia Marin; Julia Luo; Catherine Le; Brinley R Ford; Mélanie Langelier; Irah L King; Maziar Divangahi; William D Foulkes; André Veillette; Donald C Vinh
Journal:  J Exp Med       Date:  2018-12-03       Impact factor: 14.307

5.  Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Authors:  Tarana Singh Dang; Joseph D P Willet; Helen R Griffin; Neil V Morgan; Graeme O'Boyle; Peter D Arkwright; Stephen M Hughes; Mario Abinun; Louise J Tee; Dawn Barge; Karin R Engelhardt; Michael Jackson; Andrew J Cant; Eamonn R Maher; Mauro Santibanez Koref; Louise N Reynard; Simi Ali; Sophie Hambleton
Journal:  J Clin Immunol       Date:  2016-01-22       Impact factor: 8.317

  5 in total

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