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Respiratory Complications in Patients with Hyper IgM Syndrome

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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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Acknowledgments

We would like to thank Dr. Zamani for her contribution in the radiologic assessment of our patients.

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Authors and Affiliations

  1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran

    Bobak Moazzami, Reza Yazdani, Fatemeh Kiaei, Mitra Tafakori, Hassan Abolhassani & Asghar Aghamohammadi

  2. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran

    Gholamreza Azizi

  3. Department of Pediatric Pulmonary and Sleep Medicine, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Mohammadreza Modaresi & Rohola Shirzadi

  4. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Seyed Alireza Mahdaviani

  5. Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran

    Mahsa Sohani

  6. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at the Karolinska University Hospital Huddinge, Stockholm, Sweden

    Hassan Abolhassani

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  1. Bobak Moazzami
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  2. Reza Yazdani
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  10. Hassan Abolhassani
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  11. Asghar Aghamohammadi
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Corresponding authors

Correspondence to Reza Yazdani or Asghar Aghamohammadi.

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This study was approved by the Ethics Committee of the Tehran University of the Medical Sciences and informed consents were obtained from all patients and/or their parents.

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Moazzami, B., Yazdani, R., Azizi, G. et al. Respiratory Complications in Patients with Hyper IgM Syndrome. J Clin Immunol 39, 557–568 (2019). https://doi.org/10.1007/s10875-019-00650-3

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