A unique phenotype of longitudinal extensive transverse myelitis in autoimmune lymphoproliferative syndrome

Cathérine Dekeyser; Leslie Naesens; Fritz Offner; Ciel De Vriendt; Alexander Schauwvlieghe; Tessa Kerre; Guy Laureys

doi:10.1016/j.jneuroim.2022.577866

A unique phenotype of longitudinal extensive transverse myelitis in autoimmune lymphoproliferative syndrome

J Neuroimmunol. 2022 Jun 15:367:577866. doi: 10.1016/j.jneuroim.2022.577866. Epub 2022 Apr 12.

Authors

Cathérine Dekeyser¹, Leslie Naesens², Fritz Offner³, Ciel De Vriendt⁴, Alexander Schauwvlieghe⁵, Tessa Kerre⁶, Guy Laureys⁷

Affiliations

¹ Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium. Electronic address: [email protected].
² Primary Immunodeficiency Research Lab, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University hospital, Corneel Heymanslaan, 10, Ghent, Belgium. Electronic address: [email protected].
³ Department of Haematology, Ghent University Hospital, Corneel Heymanslaan, 10, Ghent, Belgium. Electronic address: [email protected].
⁴ Department of Haematology, Ghent University Hospital, Corneel Heymanslaan, 10, Ghent, Belgium. Electronic address: [email protected].
⁵ Department of Haematology, Ghent University Hospital, Corneel Heymanslaan, 10, Ghent, Belgium. Electronic address: [email protected].
⁶ Department of Haematology, Ghent University Hospital, Corneel Heymanslaan, 10, Ghent, Belgium. Electronic address: [email protected].
⁷ Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium. Electronic address: [email protected].

PMID: 35453041
DOI: 10.1016/j.jneuroim.2022.577866

Abstract

A 49-year-old patient with a history of lymphoproliferation and autoimmune cytopenias presented with unexplained longitudinal extensive transverse myelitis. Flow cytometry on peripheral blood showed an elevated level of double negative T lymphocytes, a finding typical for autoimmune lymphoproliferative syndrome (ALPS). Inborn error of immunity (IEI) gene panel demonstrated a heterozygous variant in the FAS gene (c.857G > A, p.(Gly286Glu)), formally confirming the diagnosis. Autoimmune neurological conditions in a context of predisposition for infection and lymphoproliferation should raise suspicion of IEI. Specific testing for ALPS should be considered in patients with a history of non-malignant lymphoproliferation, multilineage cytopenias and unexplained autoimmune (neurological) manifestations.

Keywords: Autoimmune lymphoproliferative syndrome; Cytopenia; Haematology; Inborn errors of immunity; Longitudinal extensive transverse myelitis; Neuroinflammation.

Publication types

Case Reports

MeSH terms

Autoimmune Lymphoproliferative Syndrome* / complications
Autoimmune Lymphoproliferative Syndrome* / diagnosis
Autoimmune Lymphoproliferative Syndrome* / genetics
Heterozygote
Humans
Myelitis, Transverse* / diagnostic imaging
Phenotype
Thrombocytopenia*
fas Receptor

Substances

fas Receptor