Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to CD40 Deficiency

Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to CD40 Deficiency

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, aut...

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Bibliographic Details
Main Authors: Ahmad Bahrami, Zahra Soltani, Mohammad Reza Fazlollahi, Farzaneh Rahmani, Massoud Houshmand, Marzieh Mazinani, Nima Rezaei
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2019-01-01
Series:Acta Medica Iranica
Subjects:
Hyper Immunoglobulin M syndrome
CD40
HIGM type 3
lymphoid hyperplasia
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/7252
Description
Summary: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.
ISSN:0044-6025
1735-9694

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