Title of article
Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to CD40 Deficiency
Author/Authors
Bahrami ، Ahmad - Iran University of Medical Sciences , Soltani ، Zahra - Iran University of Medical Sciences , Fazlollahi ، Mohammad Reza - Tehran University of Medical Sciences , Rahmani ، Farzaneh - Tehran University of Medical Sciences , Houshmand ، Massoud - National Institute of Genetic Engineering and Biotechnology (NIGEB) , Mazinani ، Marzieh - Tehran University of Medical Sciences , Rezaei ، Nima - Tehran University of Medical Sciences
Pages
4
From page
811
To page
814
Abstract
CD40 deficiency yield to an autosomal recessive subtype of hyper-immunoglobulin M syndrome (HGIM type 3), presenting with an almost identical clinical picture to X-linked CD40L deficiency (HIGM type 1) with profound T-cell dysfunction yielding to opportunistic infections as well as neutropenia, autoimmunity, and malignancy. We presented a girl with recurrent upper respiratory tract infections and lymphoid hyperplasia which was diagnosed with type 3 hyper IgM syndrome due to CD40 gene mutation. Otitis media with opportunistic germs and no evidence for an X-linked pattern of inheritance were diagnostic keys to type 3 hyper IgM syndrome in our patient.
Keywords
Hyper , Immunoglobulin M syndrome , CD40 , HIGM type 3 , lymphoid hyperplasia
Journal title
Acta Medica Iranica
Serial Year
2018
Journal title
Acta Medica Iranica
Record number
2448242
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