RESUMEN
Mutations in cardiotrophin-like cytokine factor (CLCF1) and the related cytokine to which it binds, cytokine receptor-like factor 1 (CRLF1), are associated with Crisponi/cold induced sweating syndromes, and lead to early neonatal death in mice due to a suckling defect. These cytokines are members of the IL-6 superfamily, and form a range of composite cytokines that signal through gp130 bound either to the ciliary neurotrophic factor receptor (CNTFR) or a complex that involves the IL-27 p28 subunit. This review describes current knowledge of the signalling complexes formed by these cytokines, and explores their described and suggested roles in the neural, haematopoietic, skeletal, renal, immune and respiratory systems during development and adulthood, and in degenerative diseases and cancer.
Asunto(s)
Citocinas/inmunología , Fiebre/inmunología , Deformidades Congénitas de la Mano/inmunología , Interleucina-6/inmunología , Proteínas de Neoplasias/inmunología , Neoplasias/inmunología , Trismo/congénito , Animales , Subunidad alfa del Receptor del Factor Neurotrófico Ciliar/genética , Subunidad alfa del Receptor del Factor Neurotrófico Ciliar/inmunología , Receptor gp130 de Citocinas/genética , Receptor gp130 de Citocinas/inmunología , Citocinas/genética , Muerte Súbita , Facies , Fiebre/genética , Deformidades Congénitas de la Mano/genética , Humanos , Hiperhidrosis , Interleucina-6/genética , Interleucinas/genética , Interleucinas/inmunología , Ratones , Contracción Muscular/genética , Contracción Muscular/inmunología , Proteínas de Neoplasias/genética , Neoplasias/genética , Trismo/genética , Trismo/inmunologíaRESUMEN
We present a patient with Smith-Lemli-Opitz syndrome with immunodeficiency. The patient suffered numerous infectious episodes, atopic dermatitis and wheezing. Immunological investigations demonstrated severely reduced oxidative burst-responsiveness of the blood monocytes, whereas chemotaxis, phagocytosis and interleukin-1 production were normal. Tests of neutrophils and lymphocytes were normal excluding previously described immune deficiency disorders. The father proved to have diminished monocyte oxidative metabolism as well, whereas the mother had normal monocyte function. The genetic and immunological aspects are discussed in relation to the syndrome.