Bobak Moazzami1, Reza Yazdani2, Gholamreza Azizi3, Fatemeh Kiaei1, Mitra Tafakori1, Mohammadreza Modaresi4, Rohola Shirzadi4, Seyed Alireza Mahdaviani5, Mahsa Sohani6, Hassan Abolhassani1,7, Asghar Aghamohammadi8. 1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. 2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. r_yazdani@sina.tums.ac.ir. 3. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran. 4. Department of Pediatric Pulmonary and Sleep Medicine, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 5. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. 6. Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran. 7. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at the Karolinska University Hospital Huddinge, Stockholm, Sweden. 8. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. aghamohammadi@sina.tums.ac.ir.
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.
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-deficientpatients (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.
Authors: P Quartier; M Debré; J De Blic; R de Sauverzac; N Sayegh; N Jabado; E Haddad; S Blanche; J L Casanova; C I Smith; F Le Deist; G de Saint Basile; A Fischer Journal: J Pediatr Date: 1999-05 Impact factor: 4.406
Authors: Vanessa Howard; Jeffrey M Greene; Savita Pahwa; Jerry A Winkelstein; John M Boyle; Mehmet Kocak; Mary Ellen Conley Journal: Clin Immunol Date: 2005-12-22 Impact factor: 3.969
Authors: M Gharagozlou; F A Ebrahimi; A Farhoudi; A Aghamohammadi; M-H Bemanian; Z Chavoshzadeh; M Heidarzadeh; M Mehdizadeh; M Moin; M Movahedi; M Nabavi; Z Pourpak; N Rezaei Journal: Monaldi Arch Chest Dis Date: 2006-06
Authors: Y Minegishi; A Lavoie; C Cunningham-Rundles; P M Bédard; J Hébert; L Côté; K Dan; D Sedlak; R H Buckley; A Fischer; A Durandy; M E Conley Journal: Clin Immunol Date: 2000-12 Impact factor: 3.969
Authors: Jerry A Winkelstein; Mary C Marino; Hans Ochs; Ramsey Fuleihan; Paul R Scholl; Raif Geha; E Richard Stiehm; Mary Ellen Conley Journal: Medicine (Baltimore) Date: 2003-11 Impact factor: 1.889
Authors: F Rusconi; C Panisi; R M Dellepiane; F Cardinale; L Chini; B Martire; N Bonelli; G Felisati; M C Pietrogrande Journal: Arch Dis Child Date: 2003-12 Impact factor: 3.791
Authors: P Revy; T Muto; Y Levy; F Geissmann; A Plebani; O Sanal; N Catalan; M Forveille; R Dufourcq-Labelouse; A Gennery; I Tezcan; F Ersoy; H Kayserili; A G Ugazio; N Brousse; M Muramatsu; L D Notarangelo; K Kinoshita; T Honjo; A Fischer; A Durandy Journal: Cell Date: 2000-09-01 Impact factor: 41.582
Authors: Jose A Rodriguez; Tami J Bang; Carlos S Restrepo; Daniel B Green; Lorna P Browne; Daniel Vargas Journal: Radiol Cardiothorac Imaging Date: 2021-03-25