Neutrophil specific granule deficiency

Definition:

Neutrophil-specific granule deficiency (SGD) is a rare disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 is chromatin-remodeling factor, that interacts with CEBP epsilon.

References:

[1]. J A Lekstrom-Himes, et al. Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med. 1999 Jun 7;189(11):1847-52. [Content Brief]

[2]. Maximilian Witzel, et al. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017 May;49(5):742-752. [Content Brief]

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