Case report a case of common variable immunodeficiency with crebp gene mutation without rubinstein taybi syndrome features

HIGHLIGHTS

  • who: Ugur Musabak et al. from the Division of Immunology and Allergy, Baskent University, Faculty of Medicine, Ankara, Turkey have published the research: Case Report A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features, in the Journal: Case Reports in Immunology of 12/04/2022
  • what: In this article a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein-Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented. The authors report a rare . . .

     

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