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

• Published in: Journal of neuroimmunology Vol. 367; p. 577866
• Main Authors: Dekeyser, Cathérine, Naesens, Leslie, Offner, Fritz, De Vriendt, Ciel, Schauwvlieghe, Alexander, Kerre, Tessa, Laureys, Guy
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15-06-2022
• Subjects: Autoimmune lymphoproliferative syndrome; Autoimmune Lymphoproliferative Syndrome - complications; Autoimmune Lymphoproliferative Syndrome - diagnosis; Autoimmune Lymphoproliferative Syndrome - genetics; Cytopenia; fas Receptor; Haematology; Heterozygote; Humans; Inborn errors of immunity; Longitudinal extensive transverse myelitis; Myelitis, Transverse - diagnostic imaging; Neuroinflammation; Phenotype; Thrombocytopenia; Longitudinal extensive transverse myelitis; Neuroinflammation; Autoimmune lymphoproliferative syndrome; Haematology; Inborn errors of immunity; Cytopenia
• ISSN: 0165-5728; 1872-8421
• DOI: 10.1016/j.jneuroim.2022.577866

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.
•Lymphoproliferation and unexplained autoimmunity should raise suspicion for ALPS.•ALPS should be considered in unexplained autoimmune neurological disease.•Inborn errors of immunity can manifest as neurological disease.