Journal of Clinical Immunology

, Volume 39, Issue 6, pp 557–568 | Cite as

Respiratory Complications in Patients with Hyper IgM Syndrome

  • Bobak Moazzami
  • Reza YazdaniEmail author
  • Gholamreza Azizi
  • Fatemeh Kiaei
  • Mitra Tafakori
  • Mohammadreza Modaresi
  • Rohola Shirzadi
  • Seyed Alireza Mahdaviani
  • Mahsa Sohani
  • Hassan Abolhassani
  • Asghar AghamohammadiEmail author
Original Article



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.


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.


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%).


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.


Hyper immunoglobulin M primary immunodeficiency respiratory complications pneumonia otitis media sinusitis bronchiectasis 



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

Compliance with Ethical Standards

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.

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

10875_2019_650_MOESM1_ESM.docx (55 kb)
ESM 1 (DOCX 55 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Bobak Moazzami
    • 1
  • Reza Yazdani
    • 1
    Email author
  • Gholamreza Azizi
    • 2
  • Fatemeh Kiaei
    • 1
  • Mitra Tafakori
    • 1
  • Mohammadreza Modaresi
    • 3
  • Rohola Shirzadi
    • 3
  • Seyed Alireza Mahdaviani
    • 4
  • Mahsa Sohani
    • 5
  • Hassan Abolhassani
    • 1
    • 6
  • Asghar Aghamohammadi
    • 1
    Email author
  1. 1.Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical ScienceTehranIran
  2. 2.Non-Communicable Diseases Research CenterAlborz University of Medical SciencesKarajIran
  3. 3.Department of Pediatric Pulmonary and Sleep Medicine, Children Medical CenterTehran University of Medical SciencesTehranIran
  4. 4.Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD)Shahid Beheshti University of Medical SciencesTehranIran
  5. 5.Department of Hematology, School of Allied Medical SciencesTehran University of Medical SciencesTehranIran
  6. 6.Division of Clinical Immunology, Department of Laboratory MedicineKarolinska Institutet at the Karolinska University Hospital HuddingeStockholmSweden

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