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Patients and methods We used next generation (NGS) and Sanger sequencing to study select paediatric cases of PAN. Inclusion criteria were: 1. Onset of PAN <age-10-years; 2. Suspected familial PAN; 3. Sporadic PAN particularly with neurological involvement; and 4. Clinical features resembling the recent description of deficiency of ADA2 (DADA2). Whole exome(More)
Introduction The actin cytoskeleton is crucial at many junctures of normal immune function, and consequently there are many immune specific regulators of actin dynamics. A growing number of primary immunodeficiencies are being defined as caused by mutations in the genes encoding these regulators. In addition to immunodeficiency, immune dysregulation and(More)
Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation L Malle, B Marrero, Y Liu, G Montealegre, D Chapelle, H Kim, M O’Brien, S Hill, JR Fontana, S Ramsey, G Duckers, S Ozen, A Issekutz, H Wittkowski, D Foell, K Tenbrock, O Jones, S Holland, B Gonzalez, P Brogan, E Omoyinmi, S(More)
Results MPS detected a variable degree of somatic NLRP3 mosaicism in all patients: two carried previously described variants p.E567K and p.A352T in 5.4% and 14.6% of alleles respectively; four had novel mutations: p.G569V, p.G564D and p.Y563C (found in two unrelated patients) in 21.1%, 5%, 5.1% and 11.1% of alleles respectively. Analysis of purified B and T(More)
Introduction Cryopyrin-associated periodic Syndromes (CAPS) are caused by heterozygous mutations in the NLRP3 gene. More than 80 disease causing mutations have been identified, mostly clustered in NLRP3 exon 3, but also described in exons 4 and 6. However, up to 50% of clinically diagnosed CAPS patients (with identical clinical features and response to(More)
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