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GENATLAS PHENOTYPE
last update : 21-09-2011
Symbol CHBL
Location 3p21.31
Name chilblain lupus
Corresponding gene TREX1
Main clinical features
  • rare cutaneous form of lupus erythematosus with painful bluish-red papular or nodular lesions of the skin in acral locations, including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, also knees, precipitated by cold and wet exposure at temperatures <10 degre
  • at histology characteristic findings of lupus erythematosus, whereas edematous changes or intraluminal fibrin which are typically seen in true cold-induced perniosis or cryoglobulinemia, respectively were absent
  • histologic findings included a deep inflammatory infiltrate with perivascular distribution and granular deposits of immunoglobulins and complement along the basement membrane
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/gain of function  
    Remark(s) . Lymphoblastoid cells carrying D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus (PMID: 17440703))