Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.

Riemersma, Sietske A.; Vincent, Angela; Beeson, David; Newland, Claire; Hawke, Simon; Garabedian, Béatrice Vernet-der; Eymard, B.; Newsom‐Davis, John

doi:10.1172/jci119048

Cited by 152 publications

(103 citation statements)

References 29 publications

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“…AMC-M7 displayed the highest titer of antibody against human AChR, and all four plasmas reacted more strongly with fetal AChR than with adult AChR (Table 1). In addition, all four plasmas at 1:100 dilution inhibited fetal AChR function by >90% as described previously for AMC-M1 and AMC-M2 (8,9).…”

Section: Resultsmentioning

confidence: 96%

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

Jacobson¹,

Polizzi²,

Morriss‐Kay³

et al. 1999

J. Clin. Invest.

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Section: Resultsmentioning

confidence: 96%

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

Jacobson¹,

Polizzi²,

Morriss‐Kay³

et al. 1999

J. Clin. Invest.

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“…However, a very small number have babies affected by arthrogryposis multiplex congenital. This is the result of paralysis in utero by antibodies that inhibit the fetal isoform of acetylcholine receptors [45]. A maternal-to-fetal passive transfer model demonstrated that these antibodies were pathogenic and caused arthrogryposis multiplex congenital in the offspring [46].…”

Section: Antibody-mediated Cns Disordersmentioning

confidence: 99%

Neuroinflammation: Ways in Which the Immune System Affects the Brain

et al. 2015

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Neuroinflammation is the response of the central nervous system (CNS) to disturbed homeostasis and typifies all neurological diseases. The main reactive components of the CNS include microglial cells and infiltrating myeloid cells, astrocytes, oligodendrocytes, and the blood-brain b a r r i e r , c y t o k i n e s , a n d c y t o k i n e s i g n a l i n g . Neuroinflammatory responses may be helpful or harmful, as mechanisms associated with neuroinflammation are involved in normal brain development, as well as in neuropathological processes. This review examines the roles of various cell types that contribute to the immune dysregulation associated with neuroinflammation. Microglia enter the CNS very early in embryonic development and, as such, play an essential role in both the healthy and diseased brain. B-cell diversity contributes to CNS disease through both antibody-dependent and antibody-independent mechanisms. The influences of these B-cell mechanisms on other cell types, including myeloid cells and T cells, are reviewed in relationship to antibody-mediated CNS disorders, paraneoplastic neurological diseases, and multiple sclerosis. New insights into neuroinflammation offer exciting opportunities to investigate potential therapeutic targets for debilitating CNS diseases.

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“…It may be that AMC was present in these cases but not documented or that these mutations did not cause sufficient dysfunction of fetal AChR to result in AMC. Studies of autoimmune myasthenia clearly show that maternal antibodies that inhibit fetal AChR can associate with AMC (3,4). Here we demonstrate that the AChR δE59K mutation also affects fetal AChR function.…”

Section: Discussionmentioning

confidence: 99%

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

Brownlow¹,

Webster²,

Croxen³

et al. 2001

J. Clin. Invest.

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Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.

Cited by 152 publications

References 29 publications

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

Neuroinflammation: Ways in Which the Immune System Affects the Brain

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

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