| Literature DB >> 24316408 |
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.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