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

Jessica Galant-Swafford; Kirk M Druey; Divya Verma; Rafeul Alam

doi:10.1016/j.jacig.2023.100116

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

J Allergy Clin Immunol Glob. 2023 Aug;2(3):100116. doi: 10.1016/j.jacig.2023.100116. Epub 2023 May 18.

Authors

Jessica Galant-Swafford¹, Kirk M Druey², Divya Verma¹, Rafeul Alam¹

Affiliations

¹ Division of Allergy & Clinical Immunology, Department of Medicine, National Jewish Health, Denver, Colorado, USA.
² Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases/National Institutes of Health, Bethesda, Maryland, USA.

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.

Abstract

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