Association between neutropenia and IgG antineutrophil antibodies in a case of CD40LG deficiency due to two novel mutations

Kristian Assing; Kaspar René Nielsen; Helene Broch Tenstad; Marianne Antonius Jakobsen; Christian Nielsen; Dorthe Grosen; Ulla Birgitte Hartling

doi:10.1002/ccr3.2621

Association between neutropenia and IgG antineutrophil antibodies in a case of CD40LG deficiency due to two novel mutations

Clin Case Rep. 2019 Dec 25;8(2):313-316. doi: 10.1002/ccr3.2621. eCollection 2020 Feb.

Authors

Kristian Assing¹, Kaspar René Nielsen², Helene Broch Tenstad¹, Marianne Antonius Jakobsen¹, Christian Nielsen¹, Dorthe Grosen³, Ulla Birgitte Hartling^{3

4}

Affiliations

¹ Department of Clinical Immunology Odense University Hospital Odense Denmark.
² Department of Clinical Immunology Aalborg University Hospital Aalborg Denmark.
³ Hans Christian Andersen's Children Hospital Odense University Hospital Odense Denmark.
⁴ Present address: Department of Pediatrics Aarhus University Hospital Aarhus Denmark.

Abstract

This case suggests a mechanistic rationale for the clinical efficacy of intravenous immunoglobulins (IVIG) in treating CD40 ligand (CD40L) deficiency associated neutropenia as it is the first reported instance of free and cell-bound antineutrophil antibodies in a case of CD40L deficiency, accompanied by a prolonged and clinically severe neutropenia.

Keywords: CD40 ligand deficiency; hyper‐IgM syndrome; neutropenia; neutrophil IgG auto‐antibodies.

Publication types

Case Reports