Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum
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ORIGINAL ARTICLE
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum Junghee J. Shin 1 & Daniel Liauw 1 & Sabrina Siddiqui 1 & Juhyeon Lee 1 & Eun Jae Chung 1 & Ryan Steele 1 & Florence Ida Hsu 1 & Christina Price 1 & Insoo Kang 1 Received: 15 January 2020 / Accepted: 20 March 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose Although common variable immunodeficiency (CVID) is considered the most prevalent symptomatic primary antibody deficiency (PAD), there is a population with symptomatic PADs that do not meet criteria for CVID. We analyzed clinical and immunological profiles of patients with different PADs to better understand the differences and similarities between CVID and other PADs. Methods We extracted clinical and laboratory data of patients with PADs from electronic medical records. Patients were categorized into CVID, IgG subclass 2 deficiency (IgG2D), IgG deficiency (IgGD), and specific antibody deficiency (sAbD) based on basal immunoglobulin levels and pneumococcal vaccine responses. We compared clinical and immunological characteristics in these groups. Results All patients, regardless of PAD types, showed similar frequencies of infections, bronchiectasis, and interstitial lung disease (ILD). Hematopoietic malignancies were more frequently found in the CVID than in the IgG2D, IgGD, and sAbD groups, while the latter groups trended towards an increased frequency of connective tissue diseases (CTD). Low counts of natural killer (NK) cells were associated with malignancy, autoimmunity, and ILD in CVID but not in other PAD groups. Conclusions Higher frequency of hematopoietic malignancy in CVID than in the other PADs and association of lower NK cell counts with non-infectious complications in CVID suggest a relationship between immune alterations and the development of non-infectious manifestations in PADs. Keywords Primary antibody deficiency . Common variable immunodeficiency . IgG subclass 2 deficiency . Selective IgG subclass deficiency . IgG deficiency . Specific antibody deficiency
Introduction Primary antibody deficiencies (PADs) are a diverse group of disorders that account for 50–60% of all primary immunodeficiencies [1–3]. PADs include common variable immune deficiency (CVID), IgG subclass 2 deficiency (IgG2D), IgG Daniel Liauw and Sabrina Siddiqui contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00773-y) contains supplementary material, which is available to authorized users. * Insoo Kang [email protected] 1
Section of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Yale University School of Medicine, 300 Cedar Street, New Haven, CT 06520, USA
deficiency (IgGD), and specific antibody deficiency (sAbD). Individuals with PADs are unable to produce an effective antibody response to pathogens [3, 4], which may arise from mutations in single genes critical for the proper development and functio
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