A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with &lt;i&gt;NLRP3&lt;/i&gt; and &lt;i&gt;MEFV&lt;/i&gt; Mutations

Nakamichi, Seiko; Origuchi, Tomoki; Fukui, Shoichi; Yoda, Aya; Matsubara, Hiroshi; Nagaura, Yuki; Nishikomori, Ryuta; Abe, Kuniko; Migita, Kiyoshi; Sakamoto, Noriho; Kawakami, Atsushi; Ozono, Yoshiyuki; Maeda, Takahiro

doi:10.2169/internalmedicine.1401-18

Cited by 11 publications

(7 citation statements)

References 26 publications

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“…Remarkably, additional variants in the Mediterranean fever ( MEFV ) gene, encoding the pyrin protein, were detected in three patients (P24, P27, and P28) with p.E250K mutation (Table 2). 13 P27 and P28 had p.E148Q mutation in MEFV , which is commonly detected in familial Mediterranean fever (FMF) patients 13,15 . A recent article reported that two siblings suffering from FMF were detected with mutation p.M680I in the MEFV gene and rare missense mutation p.Val408Ile in the PSTPIP1 gene 16 .…”

Section: Discussionmentioning

confidence: 99%

“…13 P27 and P28 had p.E148Q mutation in MEFV, which is commonly detected in familial Mediterranean fever (FMF) patients. 13,15 A recent article reported that two siblings suffering from FMF were detected with mutation p.M680I in the MEFV gene and rare missense mutation p.Val408Ile in the PSTPIP1 gene. 16 The association between MEFV and PSTPIP1 variants remains unclear.…”

Section: Discussionmentioning

confidence: 99%

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Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review

Huang

Dai

et al. 2021

The Journal of Dermatology

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PSTPIP1‐associated myeloid‐related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1‐associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review

Huang

Dai

et al. 2021

The Journal of Dermatology

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“…To date, colchicine therapy has not been systematically studied for CAPS and low-penetrance variants. A recent case report documented colchicine effectiveness in an elderly women with cold-induced urticarial-like rush and a pathogenic NLRP3 variant (A439V) and an additional MEFV variant (E148Q) [ 27 ]. Among 94 CAPS patients analysed in the Eurofever Registry none was treated with colchicine [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants

et al. 2021

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Background Autoinflammatory diseases (AID) are rare chronic conditions with high disease burden, affecting children and adults. Clinically and genetically confirmed, AID can be effectively treated with targeted cytokine inhibition. In contrast, for patients with clinical AID symptoms without pathogenic gene variants, no treatment recommendations are available. Colchicine is approved and established as effective, safe and low-cost first-line therapy in Familial Mediterranean Fever. Up to now, efficacy data for colchicine in children with a clinical AID diagnosis without pathogenic gene variants are rare. This pilot study was performed to evaluate the effectiveness of colchicine in children with a clinical diagnosis of AID without pathogenic gene variants. Methods A pilot cohort study of consecutive children with active clinical AID without pathogenic gene variants treated with colchicine monotherapy was performed between 01/2009 and 12/2018. Demographics, clinical and laboratory characteristics were determined serially. Colchicine dosing and safety were documented. Physician estimate of disease activity was captured on visual analogue scales (VAS). Primary outcome: Complete response (PGA ≤2 plus CRP ≤0.5 mg/dL and/or SAA ≤10 mg/L) at last follow-up. Secondary outcomes: partial/no response, flare characteristics and requirement for rescue therapies. Analysis: Nonparametric comparison of disease activity measures. Results A total of 33 children were included; 39% were female. Median age at colchicine start was 3.8 years, median follow-up was 14.1 months. Clinical AID diagnoses included CAPS (24%), FMF (27%), PFAPA (43%) and unclassified AID (6%). At baseline, overall disease activity was moderate (PGA 4), inflammatory markers were elevated (CRP 12.1 mg/dL; SAA 289.2 mg/L), and 97% reported febrile flares. Outcome: 55% achieved complete response, 35% showed partial response and 58% had no febrile flares at last follow-up. Inflammatory markers (SAA: p < 0.0001, CRP: p < 0.005) and disease activity (p < 0.0001) decreased significantly. Overall, 93% of children experienced improvement of flare characteristics. Conclusion Colchicine was found to be effective and safe in children with a clinical AID diagnosis in the absence of pathogenic gene variants. Colchicine is a low-cost treatment option for non-organ threatening AID.

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“…All three forms are caused by the same gene, NLRP3 [ 4 , 5 ]. The prevalence of CINCA/NOMID syndrome is estimated to be 1 in 1,000,000, and approximately 40 people were diagnosed with CINCA/NOMID syndrome in Japan [ 6 ]. Although the first symptoms of CINCA/NOMID syndrome may be present at birth, there are few reports on the involvement of the placenta and umbilical cord in the disease [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature

et al. 2021

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Background Cryopyrin-associated periodic syndrome (CAPS) is a life-long, autoinflammatory disease associated with a gain-of-function mutation in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3 (NLRP3) gene, which result in uncontrolled production of IL-1β and chronic inflammation. Chronic infantile neurologic cutaneous and articular (CINCA) syndrome/neonatal-Onset multisystem inflammatory disease (NOMID) is the most severe form of CAPS. Although the first symptoms may be presented at birth, there are few reports on the involvement of the placenta and umbilical cord in the disease. Therefore, we present herein a preterm case of CINCA/NOMID syndrome and confirms intrauterine-onset inflammation with conclusive evidence by using fetal and placental histopathological examination. Case presentation The female patient was born at 33weeks of gestation by emergency caesarean section and weighted at 1,514 g. The most common manifestations of CINCA/NOMID syndrome including recurrent fever, urticarial rash, and ventriculomegaly due to aseptic meningitis were presented. She also exhibited atypical symptoms such as severe hepatosplenomegaly with cholestasis. The genetic analysis of NLRP3 revealed a heterozygous c.1698 C > G (p.Phe566Leu) mutation, and she was diagnosed with CINCA/NOMID syndrome. Further, a histopathological examination revealed necrotizing funisitis, mainly inflammation of the umbilical artery, along with focal neutrophilic and lymphocytic villitis. Conclusions The necrotizing funisitis, which only involved the artery, was an unusual observation for chorioamnionitis. These evidences suggest that foetal inflammation, probably due to overproduction of IL-1β, caused tissue damage in utero, and the first symptom of a newborn with CINCA/NOMID.

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A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with <i>NLRP3</i> and <i>MEFV</i> Mutations

Cited by 11 publications

References 26 publications

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review

Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature

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