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01-08-2019 | Primary Immunodeficiency | Original Article

Respiratory Complications in Patients with Hyper IgM Syndrome

Authors: Bobak Moazzami, Reza Yazdani, Gholamreza Azizi, Fatemeh Kiaei, Mitra Tafakori, Mohammadreza Modaresi, Rohola Shirzadi, Seyed Alireza Mahdaviani, Mahsa Sohani, Hassan Abolhassani, Asghar Aghamohammadi

Published in: Journal of Clinical Immunology | Issue 6/2019

Abstract

Purpose

Hyper Immunoglobulin M (HIgM) syndrome is a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections and associated with decreased serum IgG and IgA, but normal or increased IgM. The aim of the present study was to evaluate respiratory manifestations in patients with HIgM syndrome.

Methods

A total number of 62 patients, including 46 males and 16 females were included in the present study. To investigate the respiratory complications among HIgM patients, we evaluated the clinical hospital records, immunologic and molecular diagnostic assays, pulmonary function tests (PFT), and high-resolution computed tomography (HRCT) scans.

Results

Pneumonia was the most common respiratory manifestation (n = 35, 56.4%), followed by otitis media (45.1%), sinusitis (33.8%), and bronchiectasis (14.5%). 52.1% of the patients had abnormal PFT results, with a predominant restrictive pattern of changes. HRCT scans demonstrated abnormal findings in 85.7% of patients with found mutations. Ten cases had hilar lymphadenopathy and para-hilar infiltrates in their HRCT findings. Genetic diagnosis was confirmed in 29 HIgM patients (72.4% CD40 ligand (CD40L) and 24.1% activation-induced cytidine deaminase (AICDA/AID) deficiencies). Majority of patients with CD40L (71.4%) and AID (57.1%) deficiencies had missense mutations. Pneumonia and abnormal high-resolution computed tomography (HRCT) findings were more frequent among patients with CD40L mutation. Respiratory failure constituted the major cause of mortality (37.5%) with majority of cases occurring in CD40L-deficient patients (50%).

Conclusions

Respiratory complications are common in patients with HIgM syndrome. A proper awareness of respiratory manifestations in patients with HIgM may result in improved management, reduced morbidity and mortality, and an improvement in the quality of life of the patients.

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Title: Respiratory Complications in Patients with Hyper IgM Syndrome
Authors: Bobak Moazzami
Reza Yazdani
Gholamreza Azizi
Fatemeh Kiaei
Mitra Tafakori
Mohammadreza Modaresi
Rohola Shirzadi
Seyed Alireza Mahdaviani
Mahsa Sohani
Hassan Abolhassani
Asghar Aghamohammadi
Publication date: 01-08-2019
Publisher: Springer US
Keywords: Primary Immunodeficiency
Pulmonary-Function Tests
Bronchiectasis
Pneumonia
Published in: Journal of Clinical Immunology / Issue 6/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00650-3

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Respiratory Complications in Patients with Hyper IgM Syndrome

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