Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations - Van Montfrans, Joris M.; Hartman, Esther A. R.; Braun, Kees P. J.; Hennekam, Eric A. M.; Hak, Elisabeth A.; Nederkoorn, Paul J.; Westendorp, Willeke F.; Bredius, Robbert G. M.; Kollen, Wouter J. W.; Schölvinck, Elisabeth H.; Legger, G. Elizabeth; Meyts, Isabelle; et al. (Rheumatology (Oxford, England), 2016)
Keywords: Adenosine Deaminase - blood; Adenosine Deaminase - deficiency; Adenosine Deaminase - genetics; Agammaglobulinemia - drug therapy; Agammaglobulinemia - genetics; Child; Child, Preschool; Female; Founder Effect; Haplotypes; Homozygote; Humans; Immunosuppressive Agents - therapeutic use; Infant; Infant, Newborn; Intercellular Signaling Peptides and Proteins - blood; Intercellular Signaling Peptides and Proteins - deficiency; Intercellular Signaling Peptides and Proteins - genetics; Male; Mutation; Pedigree; Phenotype; Severe Combined Immunodeficiency - drug therapy; Severe Combined Immunodeficiency - genetics; CECR1; phenotype; early-onset stroke; vasculitis; ADA2; auto-inflammatory disease; livedo reticularis; genotype