A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features
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 c...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2022/4970973 |
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| author | Ugur Musabak Serdar Ceylaner Tuba Erdogan Ebru Sebnem Ayva |
| author_facet | Ugur Musabak Serdar Ceylaner Tuba Erdogan Ebru Sebnem Ayva |
| author_sort | Ugur Musabak |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7c65fb746b7b4e19ac9ed456cb3c1618 |
| institution | Kabale University |
| issn | 2090-6617 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-7c65fb746b7b4e19ac9ed456cb3c16182025-02-03T05:51:01ZengWileyCase Reports in Immunology2090-66172022-01-01202210.1155/2022/4970973A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome FeaturesUgur Musabak0Serdar Ceylaner1Tuba Erdogan2Ebru Sebnem Ayva3Division of Immunology and AllergyDepartment of Medical GeneticsDivision of Immunology and AllergyDepartment of PathologyHypogammaglobulinemias, 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.http://dx.doi.org/10.1155/2022/4970973 |
| spellingShingle | Ugur Musabak Serdar Ceylaner Tuba Erdogan Ebru Sebnem Ayva A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features Case Reports in Immunology |
| title | A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features |
| title_full | A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features |
| title_fullStr | A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features |
| title_full_unstemmed | A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features |
| title_short | A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features |
| title_sort | case of common variable immunodeficiency with crebp gene mutation without rubinstein taybi syndrome features |
| url | http://dx.doi.org/10.1155/2022/4970973 |
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