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Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

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dc.contributor.authorBuers, Insa
dc.contributor.authorPersico, Ivana
dc.contributor.authorSchoening, Lara
dc.contributor.authorNitschke, Yvonne
dc.contributor.authorDi Rocco, Maja
dc.contributor.authorLoi, Angela
dc.contributor.authorSahi, Puneet Kaur
dc.contributor.authorÜTİNE, GÜLEN EDA
dc.contributor.authorBayraktar-Tanyeri, Bilge
dc.contributor.authorZampino, Giuseppe
dc.contributor.authorCrisponi, Giangiorgio
dc.contributor.authorRutsch, Frank
dc.contributor.authorCrisponi, Laura
dc.date.accessioned2020-10-21T20:28:01Z
dc.date.available2020-10-21T20:28:01Z
dc.date.issued2020-01-01T00:00:00Z
dc.description.abstractCrisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1 gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS/CISS belongs to the family of -CNTFR-related disorders- showing a similar clinical phenotype. Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy-11 syndrome (SCN2A) all share an overlapping phenotype with CS/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.
dc.identifier.citationBuers I., Persico I., Schoening L., Nitschke Y., Di Rocco M., Loi A., Sahi P. K. , ÜTİNE G. E. , Bayraktar-Tanyeri B., Zampino G., et al., -Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts-, CLINICAL GENETICS, cilt.97, ss.209-221, 2020
dc.identifier.doi10.1111/cge.13639
dc.identifier.pubmed31497877
dc.identifier.scopus85073819455
dc.identifier.urihttp://hdl.handle.net/20.500.12645/23468
dc.identifier.wosWOS:000486777600001
dc.titleCrisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
dc.typeArticle
dspace.entity.typePublication
local.avesis.id1b260950-761d-4bd9-b9a5-0c8e7f5e2af7
local.publication.isinternational1
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