2 documents found, page 1 of 1
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hype...
Neves, JF; Martins, C; Cordeiro, AI; Neves, C; Plagnol, V; Curtis, J; Fabre, M; Bibi, S; Borrego, LM; Moshous, D; Nejentsev, S; Gilmour, KX-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SC...
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
Neves, JF; Doffinger, R; Barcena-Morales, G; Martins, C; Papapietro, O; Plagnol, V; Curtis, J; Martins, M; Kumararatne, D; Cordeiro, AI; Neves, CBackground: The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the PLCG2 gene previously described in two patients from one family. The APLAID patients presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) a...