Duffy phenotyping and FY*B-67T/C genotyping as screening test for benign constitutional neutropenia.

ABSTRACT:

Objective

Low levels of neutrophils can be an intrinsic condition, with no clinical consequences or immunity impairment. This condition is the benign constitutional neutropenia (BCN), defined as an absolute neutrophils count (ANC) ≤2000 cells/mm. Diagnosis of BCN is of exclusion where patients are submitted to blood tests and possibly to invasive diagnostic search until secondary causes of neutropenia are ruled out. The natural history of the disease suggests benign evolution and Brazilian study showed an overall frequency of 2.59%. The main mechanisms include reduced neutrophil production, increased marginalization, extravasation to the tissues and immune destruction. Genetic studies showed strong association between the single nucleotide variant rs2814778 located on chromosome 1q

SUBMITTER: Barreto MESF 

PROVIDER: S-EPMC8573039 | biostudies-literature | 2021 Oct-Dec

REPOSITORIES: biostudies-literature