The broad spectrum of lung diseases in primary antibody deficiencies

Cinetto, Francesco; Scarpa, Riccardo; Rattazzi, Marcello; Agostini, Carlo

doi:10.1183/16000617.0019-2018

Cited by 56 publications

(51 citation statements)

References 138 publications

(220 reference statements)

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“…As for PID associated ILD, it has been recognized that PID may be associated with immune-mediated ILD especially in auto-inflammatory disorders, diseases of immune dysregulation, and predominantly antibody deficiencies such as CVID [11][12][13][14][15][16][17][18][19][20]. Two new auto-inflammatory disorders SAVI and COPA syndrome which has been reported to be associated with ILD [15][16][17] were both found in our study cohort.…”

Section: Discussionsupporting

confidence: 50%

“…In PID associated ILD, a pathological and HRCT pattern characteristic of lymphocytic intestinal pneumonia (LIP), follicular bronchiolitis (FB), pulmonary nodular lymphoid hyperplasia, and reactive lymphoid infiltrates has been reported and termed "granulomatous-lymphocytic interstitial lung disease (GLILD)" [12,[24][25][26]. GLILD was mainly reported in CVID and has also been reported in other PID such as CTLA4 deficiency, ALPS, lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency, et al [13,15,20]. In our study cohort, GLILD was found in one CVID patient with characteristic pathological and HRCT findings.…”

Section: Discussionmentioning

confidence: 99%

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Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age

Tang

Liu

et al. 2020

Orphanet J Rare Dis

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Background: Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the development of medical technologies, some new diseases were identified to be associated with chILD and its etiologic spectrum is expanding. The aim of this study is to describe the etiologic spectrum of chILD in children older than 2 years of age and summarize the approaches to diagnosis of chILD. Methods: We made a retrospective analysis of children older than 2 years of age with chILD who referred to Beijing Children's Hospital from 21 provinces all over China from 2013 to 2018. After excluding pulmonary infection, congenital heart disease, bronchopulmonary dysplasia, bronchiolitis obliterans and bronchiectasis, 133 patients were included and categorized by etiology. Clinical manifestations, high-resolution computed tomography, laboratory data, genetic data and pathologic findings were all collected and reviewed. Results: Systemic disease associated ILD were the most common causes, accounting for 49.6% of the patients, followed by alveolar structure disorder-associated ILD (27%), exposure related ILD (13.5%), and disorders masquerading as ILD (3.8%). In systemic disease associated ILD, in addition to common etiologies such as vasculitis (10.5%) and connective tissue diseases (9.0%), primary immunodeficiency diseases (PID) associated ILD (9.8%), interstitial pneumonia with autoimmune features (6.8%), and metabolic diseases (6.8%) were not rarely found. Some newly reported etiologies such as STING-associated vasculopathy with onset in infancy, COPA syndrome and STAT3 mutation were included in PID associated ILD. Genetic tests contributed to 15% of the diagnoses which mainly distributed in PID associated ILD, metabolic diseases and surfactant dysfunction disorders, and contributed to the final diagnoses more than lung biopsies (13.5%) and biopsies of rashes or other tissues (12%). Conclusions: This study first demonstrated an etiologic spectrum of chILD in Chinese children older than 2 years of age and summarized the approaches to diagnosis. The etiologic spectrum of chILD is expanding with more genetic etiologies being recognized.

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Section: Discussionsupporting

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age

Tang

Liu

et al. 2020

Orphanet J Rare Dis

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“…5 Patients with PID are at high risk for viral or bacterial sinopulmonary infections, chronic lung diseases, gastrointestinal diseases, malignancies, and autoimmune disorders. 1,6,7 These conditions may be fatal if left untreated, and early recognition and adequate treatment initiation determine prognosis. 1,6 However, on average, there is a delay of 4e5 years between onset of symptoms and diagnosis, 8e10 and in some cases the delay is up to 9 years.…”

Section: Introductionmentioning

confidence: 99%

Pharmacometric Analysis of IgPro10 in Japanese and Non-Japanese Patients With Primary Immunodeficiency

Luo

Baheti

Tortorici

et al. 2020

Clinical Therapeutics

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Purpose: Immunoglobulin (Ig) G replacement therapy, administered intravenously (IVIG) or subcutaneously (SCIG), is the standard treatment in patients with primary immunodeficiencies (PID). We aimed to characterize the pharmacokinetic (PK) characteristics of serum IgG following administration of IgPro10 every 3 or 4 weeks in Japanese patients with PID, and compare with PK in non-Japanese patients. A previously developed population PK (PPK) model was validated, and predicted parameters were compared with the results from the clinical study. Methods: The previously developed PPK model, containing IgG concentration data from 5 non-Japanese studies, was supplemented with data from 3 Japanese studies of IgPro10 or IgPro20 to compare the IgG PK parameters between Japanese and non-Japanese patients. The model was externally validated by simulating IgG concentrationetime profiles in Japanese patients to predict serum IgG PK characteristics and to compare them with observed Japanese PK data from Study IgPro10_3004. Findings: The analysis included 4502 serum IgG concentration values (from 34 Japanese and 168 non-Japanese patients). PPK estimates from the current analysis demonstrated a clearance (CL) of 0.139 L/d, central volume (V2) of 4.01 L, inter-compartmental clearance (Q) of 0.30 L/d, and peripheral volume of 3.51 L. These results were consistent with those from the previously published PPK model, with similar bootstrap means and 95% CIs. Goodness-of-fit criteria indicated that the final PPK model was consistent with observed data, with no systemic bias in model prediction. Prediction-corrected visual predictive checks confirmed a good description of data on both SCIG and IVIG. PK parameters were equivalent between Japanese and non-Japanese patients. Body weight was determined to be a significant covariate on both CL and V2. Simulated and observed AUC and maximum and minimum serum IgG concentrations were similar, with 90% CIs overlapping between simulated and observed IgG concentrations in Japanese patients. Implications: PK parameter estimates of serum IgG were similar between Japanese and non-Japanese patients with PID. The PPK model, updated with Japanese data, was consistent with the previously published PPK model and could accurately predict both individual and population serum IgG concentrationetime profiles following IgPro10 IV infusions every 3 or 4 weeks. EudraCT identifier: 2016-001631-12.

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“…More than 350 different gene mutations causing immunodeficiency have been described . Bronchiectasis may be the presenting feature of immunodeficiency, or there may have been other clues in the history (Tables ) . An intriguing recent discovery is primary immunodeficiency due to mutations in the P1K3CD gene, causing activated P13K‐δ syndrome (APDS).…”

Section: Causes Of Bronchiectasismentioning

confidence: 99%

Pathophysiology, causes and genetics of paediatric and adult bronchiectasis

Bush

Floto

2019

Respirology

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Bronchiectasis has historically been considered to be irreversible dilatation of the airways, but with modern imaging techniques it has been proposed that 'irreversible' be dropped from the definition. The upper limit of normal for the ratio of airway to arterial development increases with age, and a developmental perspective is essential. Bronchiectasis (and persistent bacterial bronchitis, PBB) is a descriptive term and not a diagnosis, and should be the start not the end of the patient's diagnostic journey. PBB, characterized by airway infection and neutrophilic inflammation but without significant airway dilatation may be a precursor of bronchiectasis, and there are many commonalities in the microbiology and the pathology, which are reviewed in this article. A high index of suspicion is essential, and a history of chronic wet or productive cough for more than 4-8 weeks should prompt investigation. There are numerous underlying causes of bronchiectasis, although in many cases no cause is found. Causes include post-infectious, especially after tuberculosis, adenoviral or pertussis infection; aspiration syndromes; defects in host defence, which may solely affect the airways (cystic fibrosis, not considered in this review, and primary ciliary dyskinesia); and primary ciliary dyskinesia or be systemic, such as common variable immunodeficiency; genetic syndromes; and anatomical defects such as intraluminal airway obstruction (e.g. foreign body), intramural obstruction (e.g. complete cartilage rings) and external airway compression (e.g. by tuberculous lymph nodes). Identification of the underlying cause is important, because some of these conditions have specific treatments and others genetic implications for the family.

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The broad spectrum of lung diseases in primary antibody deficiencies

Cited by 56 publications

References 138 publications

Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age

Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age

Pharmacometric Analysis of IgPro10 in Japanese and Non-Japanese Patients With Primary Immunodeficiency

Pathophysiology, causes and genetics of paediatric and adult bronchiectasis

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