Pearls &amp; Oy-sters: Homozygous Complement Factor I Deficiency Presenting as Fulminant Relapsing Complement-Mediated CNS Vasculitis

Levit, Elle; Leon, Janice; Lincoln, Matthew R.

doi:10.1212/wnl.0000000000207079

Cited by 2 publications

(3 citation statements)

References 12 publications

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“…Notably, MMF and anakinra (not used in our case) seem to be beneficial to reduce relapses. 3 , 11 It is interesting that under eculizumab therapy, our patient improved, did not present any side effects, and remained relapse-free for at least 33 months. We propose eculizumab as a treatment of choice in complete CFI deficiency–associated neurologic inflammation.…”

Section: Discussionmentioning

confidence: 67%

“… 10 Brain biopsies revealed perivascular hemorrhagic necrosis, demyelination, neutrophilic infiltration, and evidence of vasculitis in 1 case. 3 Neuronal membrane attack complex and C3 deposition was observed in 2 patients. 6 , 11 These findings are suggestive of complement-mediated damage.…”

Section: Discussionmentioning

confidence: 98%

“…Only 52 cases have been described to date. 2 , 3 Most patients present with recurrent infections, but other reported systemic features include systemic lupus erythematosus, vasculitis, glomerulonephritis, and CNS inflammation. 4 In this report, we discuss a patient presenting with fulminant longitudinal extensive transverse myelitis (LETM) associated with complete CFI deficiency successfully treated with aggressive immunotherapy including eculizumab, a blocker of complement activation.…”

Section: Introductionmentioning

confidence: 99%

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CNS Inflammation as the First Sign of Complement Factor I Deficiency

Massey,

Nguyen,

François

et al. 2024

Neurol Neuroimmunol Neuroinflamm

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Objectives Complement factor I (CFI) deficiency is a rare autosomal recessive inborn error of immunity. In this report, we highlight that complete CFI deficiency may present with isolated and severe CNS inflammation without associated systemic features nor prior non-CNS episodes. This inflammation may respond to complement blockade therapy. Methods This is a case description of a young girl with severe longitudinal transverse myelitis treated with aggressive immunotherapy that included eculizumab. Published cases of CFI-associated CNS inflammation were reviewed and discussed. Results A primary immunodeficiency panel revealed 2 germline pathogenic variants in the CFI gene. Further complement testing of the index case and her family confirmed complete CFI deficiency. Discussion We describe a unique case of severe spinal inflammation secondary to complete CFI deficiency. Although rare, isolated CNS inflammation may be the primary manifestation of complete CFI deficiency. To halt the uncontrolled complement-mediated inflammation associated with CFI deficiency, prompt targeted blockade of the complement pathway using eculizumab may be life changing in the acute phase. Long-lasting blockade of the complement pathway is also essential to prevent relapse in this subgroup of patients.

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Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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CNS Inflammation as the First Sign of Complement Factor I Deficiency

Massey,

Nguyen,

François

et al. 2024

Neurol Neuroimmunol Neuroinflamm

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WITHDRAWN: From myometrium to fibrosis: the underlying mechanism of endometrial injury in intrauterine adhesions

Xu,

Guo,

Zhao

et al. 2024

Preprint

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Our previous research revealed myometrium is closely related to the occurrence and regeneration of endometrial injury. This study aims to explore potential pathways of endometrial injury in intrauterine adhesions (IUA). Histological, transcriptomics, and proteomics methods were conducted on moderate and severe IUA leisional tissue, inner and outer normal myometrium. The results showed both IUA leisional tissues expressed smooth muscle markers α-SMA and H-caldesmon, and there was no statistically different between severe IUA leisional tissue with normal myometrium (P > 0.05). The genes involved in cell mitosis, such as KIF14, KIF4A, and CIT were downregulated in both IUA leisional tissues compared to inner myometrium. Additionally, the complement-coagulation cascade system was activated, with complement component C4A, C6, and Complement factor I downregulated in both IUA leisional tissues, while anticoagulant and fibrinolytic substances like Vitamin K-dependent protein S and Heparin cofactor II downregulated only in severe IUA leisional tissue. This study confirmed the correlation of endometrial injury with inner myometrium, revealed the inhibition of mitotic pathways may obstruct endometrial regeneration in IUA and stimulating consumption of fibrinolytic substances may further exacerbate the fibrosis of IUA.

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Pearls & Oy-sters: Homozygous Complement Factor I Deficiency Presenting as Fulminant Relapsing Complement-Mediated CNS Vasculitis

Cited by 2 publications

References 12 publications

CNS Inflammation as the First Sign of Complement Factor I Deficiency

CNS Inflammation as the First Sign of Complement Factor I Deficiency

WITHDRAWN: From myometrium to fibrosis: the underlying mechanism of endometrial injury in intrauterine adhesions

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