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New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.


ABSTRACT: Neutrophils are the most common type of leukocyte in human circulating blood and constitute one of the chief mediators for innate immunity. Defined as a reduction from a normal distribution of values, neutropenia results from a number of congenital and acquired conditions. Neutropenia may be insignificant, temporary, or associated with a chronic condition with or without a vulnerability to life-threatening infections. As an inherited bone marrow failure syndrome, neutropenia may be associated with transformation to myeloid malignancy. Recognition of an inherited bone marrow failure syndrome may be delayed into adulthood. The list of monogenic neutropenia disorders is growing, heterogeneous, and bewildering. Furthermore, greater knowledge of immune-mediated and drug-related causes makes the

SUBMITTER: Corey SJ 

PROVIDER: S-EPMC5912212 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature