scholarly journals Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study

2022 ◽  
Vol 50 (1) ◽  
pp. 80-84
Author(s):  
Mahshid Movahedi ◽  
Mahnaz Jamee ◽  
Hosseinali Ghaffaripour ◽  
Farzad Noori ◽  
Mehdi Ghaini ◽  
...  
Keyword(s):  
Laboratory Data ◽  
Congenital Defects ◽  
Common Symptom ◽  
High Resolution Computed Tomography ◽  
Inborn Errors ◽  
Recurrent Pneumonia ◽  
Congenital Diseases ◽  
Inborn Errors Of Immunity ◽  
Pulmonary Manifestations

Background: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs.Methods: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable.Results: Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD). . Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups.Conclusions: Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities.

scholarly journals Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan

2021 ◽  
Author(s):  
Sho Hosaka ◽  
Takahiro Kido ◽  
Kazuo Imagawa ◽  
Hiroko Fukushima ◽  
Tomohiro Morio ◽  
...  
Keyword(s):  
Nationwide Survey ◽  
Congenital Defects ◽  
Common Disease ◽  
Autoinflammatory Disorders ◽  
Disease Category ◽  
Inborn Errors ◽  
Protective Measures ◽  
Nationwide Study ◽  
Inborn Errors Of Immunity ◽  
Number Of Patients

Abstract We conducted a nationwide survey of inborn errors of immunity (IEI) in Japan for the second time in 10 years, focusing on protective measures for IEI patients against infectious diseases. Questionnaires were sent to various medical departments nationwide, and a total of 1,307 patients were reported. The prevalence of IEI was 2.2 patients per 100,000 population which was comparable with the previous nationwide study. The most common disease category was autoinflammatory disorders (25%), followed by antibody deficiencies (24%) and congenital defects of phagocyte number or function (16%). We found that a significant number of patients received contraindicated vaccines, principally because the patients were not diagnosed as IEI by the time of the vaccination. Regarding diseases for which BCG vaccination is contraindicated, 43% patients had actually received BCG, of which 14% developed BCG related infections. In order to prevent IEI patients from receiving inadequate vaccines, the continuous education to parents and physicians is needed, along with the expansion of newborn screening, but efforts to screen IEI at the site of vaccination also remains important.

scholarly journals A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

2021 ◽  
Vol 12 ◽  
Author(s):  
Sandro Félix Perazzio ◽  
Patricia Palmeira ◽  
Dewton Moraes-Vasconcelos ◽  
Andréia Rangel-Santos ◽  
João Bosco de Oliveira ◽  
...  
Keyword(s):  
Quality Assessment ◽  
Laboratory Tests ◽  
Cell Activation ◽  
External Quality Assessment ◽  
Laboratory Data ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Number Of Patients ◽  
Appropriate Therapy ◽  
Increased Susceptibility

Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods.

Vision and Reading Deficits in Post-Concussion Patients: A Retrospective Analysis

2015 ◽  
pp. 206-213
Keyword(s):  
Retrospective Chart Review ◽  
Health Examination ◽  
Common Symptom ◽  
Reading Deficits ◽  
Grade Levels ◽  
Convergence Insufficiency ◽  
Return To Learn ◽  
Vision Deficits ◽  
Accommodative Facility

The prevalence of vision deficits in the pediatric/young adult concussion population in the private optometric practice setting remains unknown. Thus, a retrospective chart review in this area was conducted in the practice of the first author. Twenty-five consecutive patients with a medical diagnosis of concussion received a comprehensive vision and ocular health examination, which also included an objectively-based Visagraph reading assessment and clinical vergence/accommodative facility testing. Three primary categories of oculomotor-based deficits were found: convergence insufficiency (56%), accommodative insufficiency (76%), and oculomotor-based reading dysfunctions (68-82%). The most common symptom was headaches (84%), with 25% of the symptoms related to reading. 68% (15/22) were categorized as reading at least 2 grade levels below their current school grade level for reading eye movements based on the Visagraph findings. These overall findings are consistent with the general oculomotor-based/reading findings in the concussion/mTBI literature. The present results have important practical ramifications regarding the importance of preconcussion baseline oculomotor and Visagraph testing, as well as post-concussion follow-up testing, to help assess a student’s ability to return-to-learn (RTL).

A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice

2020 ◽  
Vol 16 ◽  
Author(s):  
Farhan Bajwa ◽  
Syed M Jafri ◽  
Karthik Ananthasubramaniam
Keyword(s):  
Surgical Procedures ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Daily Practice ◽  
Congenital Heart Diseases ◽  
Congenital Diseases ◽  
Adult Congenital ◽  
The Common ◽  
Adult Congenital Heart Diseases

: The advancement in corrective surgical procedures and anaesthesia technology has resulted in the increase survival of patients with Congenital Heart Diseases (CHD). Most of the surviving CHD patients have successfully reached adulthood and those surviving adults now outnumber the infants born with the CHD. Unfortunately, the surviving adults with CHD do not get proper care due to either inconsistent follow up or not getting care from a specialist in the field of CHD. It is imperative for general practicing clinicians to be aware of the congenital diseases as well as the current clinical recommendations. This manuscript reviews some of the common congenital diseases seen in adults such as cardiac shunts, left heat obstructive lesions and aortopathies.

scholarly journals FRI0495 FOLLOW UP OF INTERSTITIAL PNEUMONIA WITH AUTOIMMUNE FEATURES – THE EXPERIENCE OF ONE CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 846.3-846
Author(s):  
N. Madeira ◽  
M. Alvarenga Santos ◽  
L. Cunha Miranda ◽  
S. Clemente ◽  
S. Furtado
Keyword(s):  
Interstitial Pneumonia ◽  
Respiratory Symptoms ◽  
Interstitial Lung Diseases ◽  
European Respiratory Society ◽  
High Resolution Computed Tomography ◽  
Disease Evolution ◽  
Clinical Criteria ◽  
Clinical Evolution ◽  
Relative Decline

Background:Interstitial Lung Diseases (ILD) may present features suggesting an underlying autoimmune process, which seem to differentiate them from idiopathic interstitial pneumonias, although without fully meeting the classification criteria (CC) for a specific connective tissue disease. Different terms had been used to describe these conditions and, to reach a consensus, the European Respiratory Society/American Thoracic Society proposed the CC for an entity named Interstitial Pneumonia with Autoimmune Features (IPAF). Clinical evolution and prognosis of this entity are still poorly understood.Objectives:To evaluate clinical evolution and prognosis of a population of patients with IPAF.Methods:Retrospective analysis of clinical files of patients followed by the Pulmonology Department since 02/2012 until 06/2019, who met the CC for IPAF, regarding clinical, functional and radiological evolution. Patients were considered to have a progressive phenotype in 24±3 months from their 1stevaluation if they fulfil 1 of the 4 criteria: relative decline in FVC ≥10% predicted; relative decline in FVC ≥5–<10% predicted and worsened respiratory symptoms; relative decline in FVC ≥5–<10% predicted and increased extent of fibrosis on High-resolution Computed Tomography (HRCT); worsened respiratory symptoms and increased extent of fibrosis on HRCT.Results:22 (7.4%) of 296 ILD patients met IPAF CC. 59.0% were female with an age at the 1stevaluation of 66.7±12.4 years. They were all non-smokers (63.6%) or ex-smokers (36.4%). Serologic and morphologic criteria were both present in 21 (95.4%) and clinical criteria in 5 patients (22.7%). Antinuclear antibodies (ANA) were identified in 19, rheumatoid factor in 4, SSA in 3 and anti-Jo-1 in 1 patient. HRCT patterns were identified in 21 patients: 15 nonspecific interstitial pneumonia (NSIP), 5 organizing pneumonia (OP) and 2 lymphocytic interstitial pneumonia (LIP). One NSIP and 1 LIP identified on HRCT were confirmed by histopathology. Three patients had inflammatory arthritis and 2 had Raynaud’s phenomenon. Immunosuppressive therapy was introduced in most cases (18 patients, including systemic corticotherapy in 17, azathioprine in 4, mycophenolate mofetil in 1), azithromycin was prescribed in 2 patients and 3 remained without therapy. Regarding the follow up at 24±3 months from the 1stevaluation (3 patients were excluded due to too recent follow-up), 4 patients (18.2%) had progressive phenotype, 7 (31.8%) had a favourable evolution and 3 (13.6%) patients had died. During a follow-up of 31.1±19.8 months, this number rose to 6 patients (27.3%), all of them died by respiratory cause and had NSIP pattern. No differences were found in age, last FVC, therapy and time of disease evolution between those who died and the others.Conclusion:Our study showed that a small proportion of IPAF patients had a progressive phenotype and the NSIP pattern seemed to be a poor prognosis factor for survival.References:[1]Ito Y, Arita M, Kumagai S, et al. Serological and morphological prognostic factors in patients with interstitial pneumonia with autoimmune features. BMC Pulm Med 2017; 17:111 10.1186/s12890-017-0453-zDisclosure of Interests:None declared

scholarly journals Interstitial Lung Disease and Anti-Myeloperoxidase Antibodies: Not a Simple Association

2021 ◽  
Vol 10 (12) ◽  
pp. 2548
Author(s):  
Marco Sebastiani ◽  
Fabrizio Luppi ◽  
Gianluca Sambataro ◽  
Diego Castillo Villegas ◽  
Stefania Cerri ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Rheumatic Disease ◽  
Lung Disease ◽  
Interstitial Pneumonia ◽  
Usual Interstitial Pneumonia ◽  
Clinical History ◽  
High Resolution Computed Tomography ◽  
Function Testing ◽  
And Diffusion

Anti-neutrophil cytoplasmic antibodies (ANCA), mainly anti-myeloperoxidase (MPO) antibodies, have been frequently identified in patients with idiopathic pulmonary fibrosis (IPF). However, their role remains unclear, and only 7–23% of these patients develops clinically overt vasculitis. We aimed to investigate the clinical, serological, and radiological features and prognosis of anti-MPO-positive interstitial lung disease (ILD) patients. Fifty-eight consecutive patients firstly referred for idiopathic interstitial pneumonia and showing serological positivity of anti-MPO antibodies were retrospectively enrolled. For each patient, clinical data, lung function testing, chest high-resolution computed tomography (HRCT) pattern, and survival were recorded. Thirteen patients developed a rheumatic disease during a median follow-up of 39 months. Usual interstitial pneumonia (UIP) was the most frequent ILD pattern, significantly influencing the patients’ survival. In fact, while the 52-week survival of the overall population was 71.4 ± 7.5%, significantly higher than IPF, survivals of anti-MPO patients with UIP pattern and IPF were similar. Forced vital capacity and diffusion lung capacity for CO significantly declined in 37.7 and 41.5% of cases, respectively, while disease progression at chest HRCT was observed in 45.2%. A careful clinical history and evaluation should always be performed in ILD patients with anti-MPO antibodies to quickly identify patients who are developing a systemic rheumatic disease.

scholarly journals Gut Microbiota–Host Interactions in Inborn Errors of Immunity

2021 ◽  
Vol 22 (3) ◽  
pp. 1416
Author(s):  
Riccardo Castagnoli ◽  
Francesca Pala ◽  
Marita Bosticardo ◽  
Amelia Licari ◽  
Ottavia M. Delmonte ◽  
...  
Keyword(s):  
Gut Microbiome ◽  
Wide Spectrum ◽  
Adaptive Immune System ◽  
Clinical Feature ◽  
Inborn Errors ◽  
Mucosal Permeability ◽  
Microbial Dysbiosis ◽  
Inborn Errors Of Immunity ◽  
Key Aspects ◽  
And Function

Inborn errors of immunity (IEI) are a group of disorders that are mostly caused by genetic mutations affecting immune host defense and immune regulation. Although IEI present with a wide spectrum of clinical features, in about one third of them various degrees of gastrointestinal (GI) involvement have been described and for some IEI the GI manifestations represent the main and peculiar clinical feature. The microbiome plays critical roles in the education and function of the host’s innate and adaptive immune system, and imbalances in microbiota-immunity interactions can contribute to intestinal pathogenesis. Microbial dysbiosis combined to the impairment of immunosurveillance and immune dysfunction in IEI, may favor mucosal permeability and lead to inflammation. Here we review how immune homeostasis between commensals and the host is established in the gut, and how these mechanisms can be disrupted in the context of primary immunodeficiencies. Additionally, we highlight key aspects of the first studies on gut microbiome in patients affected by IEI and discuss how gut microbiome could be harnessed as a therapeutic approach in these diseases.

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