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The current study was spurred by poor healing of a perianal tear wound in one affected child homozygous for c.266\u20101G&gt;A (p.E90Sfster8) mutation, from a family reported previously. Treatment with G\u2010CSF\/CSF3 or GM\u2010CSF\/CSF2 transiently increased neutrophil\/monocytes count with no effect on wound healing. Analysis of peripheral blood revealed a lack of non\u2010classical (CD14<jats:sup>+\/\u2212<\/jats:sup>CD16<jats:sup>+<\/jats:sup>) monocytes, associated with a systemic inflammatory cytokine profile, in the two affected brothers. Importantly, despite normal expression of cognate receptors, monocytes from PN patients did not respond to M\u2010CSF or IL\u201034 in vitro, as determined by cytokine secretion or CD16 expression. RNAseq of monocytes showed 293 differentially expressed genes, including significant downregulation of <jats:italic>GATA2<\/jats:italic>, <jats:italic>AKAP6<\/jats:italic> and <jats:italic>PDE4DIP<\/jats:italic> that are associated with leucocyte differentiation and cyclic adenosine monophosphate (cAMP) signalling. Notably, the plasma cAMP was significantly low in the PN patients. Our study revealed a novel association of PN with a lack of non\u2010classical monocyte population. The defects in monocyte plasticity may contribute to disease manifestations in PN and a defective cAMP signalling may be the primary effect of the splicing errors caused by <jats:italic>USB1<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1111\/bjh.19128","type":"journal-article","created":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T05:08:50Z","timestamp":1696223330000},"page":"683-693","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Defective monocyte plasticity and altered <scp>cAMP<\/scp> pathway characterize <scp>USB1<\/scp>\u2010mutated poikiloderma with neutropenia Clericuzio type"],"prefix":"10.1111","volume":"204","author":[{"given":"Prahlad","family":"Parajuli","sequence":"first","affiliation":[{"name":"Department of Pharmaceutical and Health Sciences, Eugene Applebaum College of Pharmacy Wayne State University  Detroit Michigan USA"},{"name":"Barbara Ann Karmanos Cancer Institute  Michigan Detroit USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas B.","family":"Craig","sequence":"additional","affiliation":[{"name":"Barbara Ann Karmanos Cancer Institute  Michigan Detroit USA"},{"name":"Department of Pediatrics Wayne State University School of Medicine  Detroit Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8366-9487","authenticated-orcid":false,"given":"Manisha","family":"Gadgeel","sequence":"additional","affiliation":[{"name":"Children's Hospital of Michigan, Detroit Medical Center  Detroit Michigan USA"},{"name":"Central Michigan University  Mt. 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