Crisponi syndrome

11/01/2022 - "Here the authors report two South Indian neonates with confirmed diagnosis of Crisponi syndrome, caused by novel pathogenic variants in cytokine receptor-like factor 1 (CRLF1) gene. "
07/01/2021 - "Mutations in the cytokine receptor like factor 1 (CRLF1) gene causes the CISS1 (Cold- induced sweating syndrome type 1) disease (over 95% of patients). "
11/15/2020 - "Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family."
12/01/2017 - "Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). "
12/01/2012 - "Recently, it has been demonstrated that mutations of the CRLF1 gene 'cytokine receptor-like factor 1' are associated with Crisponi syndrome. "

01/01/2013 - "Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. "
06/27/2006 - "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient."
01/17/2022 - "In this review, we highlight the role of the soluble type I cytokine receptor CRLF1 (cytokine receptor-like factor-1) and the Interleukin (IL)-6 cytokine CLCF1 (cardiotrophin-like cytokine factor 1) during development in physiological and pathological conditions with particular emphasis on Crisponi/cold-induced sweating syndrome (CS/CISS) and discuss new insights, challenges and possibilities arising from recent studies."

01/17/2022 - "In this review, we highlight the role of the soluble type I cytokine receptor CRLF1 (cytokine receptor-like factor-1) and the Interleukin (IL)-6 cytokine CLCF1 (cardiotrophin-like cytokine factor 1) during development in physiological and pathological conditions with particular emphasis on Crisponi/cold-induced sweating syndrome (CS/CISS) and discuss new insights, challenges and possibilities arising from recent studies."

12/19/2019 - "Protein modeling was performed for all variants found in this study in addition to those documented in the literature for recessive loss-of-function alleles causing Crisponi or Bohring-Opitz like cold-induced sweating syndrome. "

01/17/2022 - "In this review, we highlight the role of the soluble type I cytokine receptor CRLF1 (cytokine receptor-like factor-1) and the Interleukin (IL)-6 cytokine CLCF1 (cardiotrophin-like cytokine factor 1) during development in physiological and pathological conditions with particular emphasis on Crisponi/cold-induced sweating syndrome (CS/CISS) and discuss new insights, challenges and possibilities arising from recent studies."

05/01/2007 - "We report here the exclusion of the leukemia inhibitory factor receptor gene in Crisponi syndrome and the identification of homozygote or compound heterozygote cytokine receptor-like factor 1 (CRLF1) mutations in four children from three unrelated families. "

06/27/2006 - "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient."

06/27/2006 - "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient."

06/01/2016 - "PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME."
05/01/2020 - "Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. "

05/01/2020 - "Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. "

05/01/2020 - "[General anesthesia for Crisponi syndrome: case report]."