Work

Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome

Year: 2023

Type: article

Abstract: IRAK-4 haploinsufficiency can present with pneumococcal sepsis and poor pneumococcal vaccine response in adults. Further research can determine the significance of unrecognized pathogenic variants in IRAK4 in adults presenting with pneumococcal sepsis and the utility of immunoglobulin replacement in these patients.

Source: Journal of Allergy and Clinical Immunology Global

DOI: 10.1016/j.jacig.2023.100116

Authors: Jessica Galant-Swafford, Kirk M. Druey, Divya Verma, Rafeul Alam

Institutions: National Jewish Health, National Institutes of Health, National Institute of Allergy and Infectious Diseases

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,000