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Title: Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.
Austin Authors: Slade, Charlotte A;Bosco, Julian J;Binh Giang, Tran;Kruse, Elizabeth;Stirling, Robert G;Cameron, Paul U;Hore-Lacy, Fiona;Sutherland, Michael F;Barnes, Sara L;Holdsworth, Stephen;Ojaimi, Samar;Unglik, Gary A;De Luca, Joseph;Patel, Mittal;McComish, Jeremy;Spriggs, Kymble;Tran, Yang;Auyeung, Priscilla;Nicholls, Katherine;O'Hehir, Robyn E;Hodgkin, Philip D;Douglass, Jo A;Bryant, Vanessa L;van Zelm, Menno C
Affiliation: Department of Clinical Immunology and Allergy, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
Immunology Division, The Walter and Eliza Hall Institute for Medical Research, Melbourne, Victoria, Australia
Department of Medical Biology, The University of Melbourne, Melbourne, Victoria, Australia
The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, Victoria, Australia
Department of Allergy, Immunology and Respiratory Medicine, The Alfred Hospital, Melbourne, Victoria, Australia
Department of Infectious Diseases, Monash University and Alfred Hospital, Melbourne, Victoria, Australia
Department of Respiratory and Sleep Medicine, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine, Monash Medical Centre, Melbourne, Victoria, Australia
Department of Allergy and Immunology, Monash Medical Centre, Melbourne, Victoria, Australia
School of Medicine, The University of Melbourne, Melbourne, Victoria, Australia
Department of Immunology and Pathology, Central Clinical School, Monash University and Alfred Hospital, Melbourne, Victoria, Australia
Issue Date: May-2018 2018-05
Publication information: Frontiers in immunology 2018; 9: 694
Abstract: Predominantly antibody deficiencies (PADs) are the most common type of primary immunodeficiency in adults. PADs frequently pass undetected leading to delayed diagnosis, delayed treatment, and the potential for end-organ damage including bronchiectasis. In addition, PADs are frequently accompanied by comorbid autoimmune disease, and an increased risk of malignancy. To characterize the diagnostic and clinical features of adult PAD patients in Victoria, Australia. We identified adult patients receiving, or having previously received immunoglobulin replacement therapy for a PAD at four hospitals in metropolitan Melbourne, and retrospectively characterized their clinical and diagnostic features. 179 patients from The Royal Melbourne, Alfred and Austin Hospitals, and Monash Medical Centre were included in the study with a median age of 49.7 years (range: 16-87 years), of whom 98 (54.7%) were female. The majority of patients (116; 64.8%) met diagnostic criteria for common variable immunodeficiency (CVID), and 21 (11.7%) were diagnosed with X-linked agammaglobulinemia (XLA). Unclassified hypogammaglobulinemia (HGG) was described in 22 patients (12.3%), IgG subclass deficiency (IGSCD) in 12 (6.7%), and specific antibody deficiency (SpAD) in 4 individuals (2.2%). The remaining four patients had a diagnosis of Good syndrome (thymoma with immunodeficiency). There was no significant difference between the age at diagnosis of the disorders, with the exception of XLA, with a median age at diagnosis of less than 1 year. The median age of reported symptom onset was 20 years for those with a diagnosis of CVID, with a median age at diagnosis of 35 years. CVID patients experienced significantly more non-infectious complications, such as autoimmune cytopenias and lymphoproliferative disease, than the other antibody deficiency disorders. The presence of non-infectious complications was associated with significantly reduced survival in the cohort. Our data are largely consistent with the experience of other centers internationally, with clear areas for improvement, including reducing diagnostic delay for patients with PADs. It is likely that these challenges will be in part overcome by continued advances in implementation of genomic sequencing for diagnosis of PADs, and with that opportunities for targeted treatment of non-infectious complications.
DOI: 10.3389/fimmu.2018.00694
PubMed URL: 29867917
ISSN: 1664-3224
Type: Journal Article
Subjects: X-linked agammaglobulinemia
common variable immunodeficiency
diagnostic delay
immunoglobulin subclass deficiency
predominantly antibody deficiency
primary immunodeficiency
specific antibody deficiency
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