Primate Monocytes - CD14, CD16 - Ziegler-Heitbrock

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Evaluation of Immune Deficiency Disorders in the Clinic-A Case for Routine Testing of Monocyte Subsets with CD14 and CD16 Expression.

Abstract

I n this issue of Ped Allergy Immunol and Pulmonol, Tekcan et al. report on a new young patient with poikiloderma neutropenia clericuzio type (PNC—OMIM #604173) with USB1 c.531delA mutation and include a previously unreported finding of low immunoglobulin levels for age; the lymphocyte and subset counts were normal.1 These findings contrast with the high Ig values and low lymphocyte counts previously reported in a PNC subject from Turkiye with the same USB1 mutation.2 PNC is a rare disorder characterized by poikiloderma, increased sinopulmonary infections in early childhood, low white blood cell and low neutrophil counts, neuromyopathy, and hypogonadism in males.3 PNC is caused by hypofunctioning mutations in USB1 gene—a component of the U6 spliceosome. In brief, USB1 cleaves the polyadenylate tail of U6snRNA. How exactly the disordered deadenylation of U6snRNA causes the multisystem manifestations seen in affected subjects is unknown.

Authors: Ravindranath Y, Parajuli P,
Journal: Pediatr Allergy Immunol Pulmonol;2024 Dec;37(4):116-117 doi:10.1089/ped.2024.0129
Year: 2024
PubMed: PMID: 39629726 (Go to PubMed)