Volume 2022, Issue 1 4970973
Case Report
Open Access

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

Ugur Musabak

Corresponding Author

Ugur Musabak

Division of Immunology and Allergy, Baskent University, Faculty of Medicine, Ankara, Turkey baskent.edu.tr

Search for more papers by this author
Serdar Ceylaner

Serdar Ceylaner

Department of Medical Genetics, Lokman Hekim University, Ankara, Turkey

Search for more papers by this author
Tuba Erdogan

Tuba Erdogan

Division of Immunology and Allergy, Baskent University, Faculty of Medicine, Ankara, Turkey baskent.edu.tr

Search for more papers by this author
Ebru Sebnem Ayva

Ebru Sebnem Ayva

Department of Pathology, Baskent University, Faculty of Medicine, Ankara, Turkey baskent.edu.tr

Search for more papers by this author
First published: 04 July 2022
Citations: 1
Academic Editor: Necil Kütükçüler

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.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability

No data were used to support this study.

The full text of this article hosted at iucr.org is unavailable due to technical difficulties.