Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.
Identifieur interne : 001598 ( Main/Exploration ); précédent : 001597; suivant : 001599Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.
Auteurs : Michael Henrickson [États-Unis] ; Heng Wang [États-Unis]Source :
- Clinical rheumatology [ 1434-9949 ] ; 2017.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Angiopathies intracrâniennes.
- imagerie diagnostique : Angiopathies intracrâniennes.
- traitement médicamenteux : Angiopathies intracrâniennes.
- usage thérapeutique : Anticorps monoclonaux humanisés.
- Humains, Jeune adulte, Mâle.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : SAM Domain and HD Domain-Containing Protein 1.
- chemical , therapeutic use : Antibodies, Monoclonal, Humanized.
- diagnostic imaging : Cerebrovascular Disorders.
- drug therapy : Cerebrovascular Disorders.
- genetics : Cerebrovascular Disorders.
- Humans, Male, Young Adult.
Abstract
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression. We report a corticosteroid-dependent SAMS patient, a 19-year-old male of Old Order Amish ancestry, with diffuse cerebral arteriopathy identified through contrast brain magnetic resonance arteriography (MRA) and MRI. He received subcutaneous adalimumab every 2 weeks for 9 months with minimal response. Then, he started intravenous tocilizumab (6 mg/kg/dose) every 4 weeks. He sustained steadily normalizing cerebral vasculopathy and lab abnormalities resolved, allowing prednisone reduction. We conclude that the cerebral vasculopathy of the homozygous SAMHD1 mutation-mediated auto-inflammatory disease SAMS responded favorably to tocilizumab infusion therapy.
DOI: 10.1007/s10067-017-3600-2
PubMed: 28289923
Affiliations:
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45229-3029</wicri:regionArea><wicri:noRegion>45229-3029</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Heng" sort="Wang, Heng" uniqKey="Wang H" first="Heng" last="Wang">Heng Wang</name><affiliation wicri:level="2"><nlm:affiliation>DDC Clinic for Special Needs Children, Middlefield, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>DDC Clinic for Special Needs Children, Middlefield, OH</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author></analytic><series><title level="j">Clinical rheumatology</title><idno type="eISSN">1434-9949</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antibodies, Monoclonal, Humanized (therapeutic use)</term><term>Cerebrovascular Disorders (diagnostic imaging)</term><term>Cerebrovascular Disorders (drug 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qualifier="drug therapy" xml:lang="en"><term>Cerebrovascular Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebrovascular Disorders</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Angiopathies intracrâniennes</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Angiopathies intracrâniennes</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Angiopathies intracrâniennes</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Anticorps monoclonaux humanisés</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Jeune adulte</term><term>Mâle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression. We report a corticosteroid-dependent SAMS patient, a 19-year-old male of Old Order Amish ancestry, with diffuse cerebral arteriopathy identified through contrast brain magnetic resonance arteriography (MRA) and MRI. He received subcutaneous adalimumab every 2 weeks for 9 months with minimal response. Then, he started intravenous tocilizumab (6 mg/kg/dose) every 4 weeks. He sustained steadily normalizing cerebral vasculopathy and lab abnormalities resolved, allowing prednisone reduction. We conclude that the cerebral vasculopathy of the homozygous SAMHD1 mutation-mediated auto-inflammatory disease SAMS responded favorably to tocilizumab infusion therapy.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li></region></list><tree><country name="États-Unis"><noRegion><name sortKey="Henrickson, Michael" sort="Henrickson, Michael" uniqKey="Henrickson M" first="Michael" last="Henrickson">Michael Henrickson</name></noRegion><name sortKey="Wang, Heng" sort="Wang, Heng" uniqKey="Wang H" first="Heng" last="Wang">Heng Wang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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