Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient.
Edna Morán-VillaseñorMaria Del Mar Saéz de OcarizA TorreloJ I ArosteguiMarco Antonio Yamazaki-NakashimadaMiguel Angel Alcántara-OrtigozaAriadna González-Del AngelJosé Antonio Velázquez-AragónG López-HerreraL Berrón-RuizMaria Teresa García-RomeroPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2019)
Presence of CNSV has not been previously described in APLAID, however as the number of reported patients with APLAID is very small, it is possible that the overall spectrum of clinical manifestations has not been completely elucidated. The herein identified p.(Leu848Pro) variant was also documented in a Portuguese patient, suggesting that it could be a PLCG2 gene 'hot-spot'.