Published in

Hindawi, Case Reports in Immunology, (2022), p. 1-5, 2022

DOI: 10.1155/2022/4970973

Links

Tools

Export citation

Search in Google Scholar

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features

Journal article published in 2022 by Ugur Musabak ORCID, Serdar Ceylaner ORCID, Tuba Erdogan ORCID, Ebru Sebnem Ayva ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Green circle
Postprint: archiving allowed
Green circle
Published version: archiving allowed
Data provided by SHERPA/RoMEO

Abstract

Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. 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.