bims-actimu 2024-02-04 papers

Issue of 2024–02–04
two papers selected by
Elodie Busch, University of Strasbourg

Curr Opin Pediatr. 2024 Jan 23.

Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations.

Emily Campbell, Marcus S Shaker, Kelli W Williams.

PURPOSE OF REVIEW: In the last 5 years, several new inborn errors of immunity (IEI) have been described, especially in the areas of immune dysregulation and autoinflammation. As a result, the clinical presentation of IEIs has broadened. We review the heterogeneous presentation of IEIs and detail several of the recently described IEIs with a focus on the noninfectious manifestations commonly seen.
RECENT FINDINGS: IEIs may present with early onset and/or multiple autoimmune manifestations, increased risk for malignancy, lymphoproliferation, severe atopy, autoinflammation and/or hyperinflammation. Because of this, patients can present to a wide array of providers ranging from primary care to various pediatric subspecialists. The International Union of Immunological Societies (IUIS) expert committee has created a phenotypic classification of IEIs in order to help clinicians narrow their evaluation based on the laboratory and clinical findings.
SUMMARY: Both primary care pediatricians and pediatric subspecialists need to be aware of the common clinical features associated with IEI and recognize when to refer to allergy-immunology for further evaluation. Early diagnosis can lead to earlier treatment initiation and improve clinical outcomes for our patients.

DOI: https://doi.org/10.1097/MOP.0000000000001331

Clin Immunol. 2024 Jan 31. pii: S1521-6616(24)00031-7. [Epub ahead of print] 109920

Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies.

Neftali J Ramirez, Janika Schulze, Steffi Walter, Jeannette Werner, Pavla Mrovecova, Sven Olek, Christoph Sachsenmaier, Bodo Grimbacher, Ulrich Salzer.

BACKGROUND: Early detection and monitoring of primary immunodeficiencies (PID) in humans require quantitative determination of immune cells from fresh blood analyzed by flow cytometry. However, epigenetic immune cell quantification allows analysis from fresh, frozen, or dried blood samples. We demonstrate the utility of epigenetic immune cell quantification for patients with PID.
METHODS: Epigenetic quantification of basic lymphocyte subpopulations of 259 samples from PID patients were compared to flow cytometric data. Epigenetic analysis was extended to T-cell subsets (Treg, Th17, Tfh, PD-1+, CCR6+) and memory B-cells and compared between venous EDTA and dried blood.
RESULTS: A high correlation of >0.9 was observed for basic T- and B-cell subsets. Extended epigenetic analysis showed quantitative trends within PID subgroups, but individually these varied substantially within these groups. Epigenetic analysis of dried blood samples was equivalent to EDTA blood.
CONCLUSION: Epigenetic immune cell quantification is suitable for immune cell profiling in PID patients.

Keywords: Epigenetic quantification; Flow cytometry; Inborn errors of immunity; Primary immunodeficiencies; Secondary immunodeficiencies

DOI: https://doi.org/10.1016/j.clim.2024.109920