Article
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Rheumatology (Oxford, England) - 1 May 2016
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, Liston Adrian, Lichtenbelt Klaske D, Giltay Jacques C, Van Haaften Gijs, De Vries Simons Gaby M, Leavis Helen, Sanders Cornelis J G, Bierings Marc B, Nierkens Stefan, Van Gijn Marielle E
Abstract excerpt
OBJECTIVE: To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1 METHODS: We present a case series of nine ADA2-deficient patients with an identical homozygous R169Q mutation. Clinical and diagnostic data were collected and available MRI studies were reviewed. We performed genealogy and haplotype analyses and...
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