3 documents found, page 1 of 1
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Dise...
Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, JBackground and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD...
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...