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 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.

Abstract WMP98: A Nationwide Study of Non-traumatic Intracranial Hemorrhage in Patients Receiving Direct Oral Anticoagulant Therapy: J-Aspect Study

Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Ryota Kurogi ◽  
Kunihiro Nishimura ◽  
Akiko Kada ◽  
Satoru Kamitani ◽  
Kuniaki Ogasawara ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Oral Anticoagulant Therapy ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Nationwide Survey ◽  
Annual Number ◽  
Prescription Data ◽  
Nationwide Study ◽  
Number Of Patients ◽  
Traumatic Intracranial Hemorrhage

Background and purpose: The incidence of non-traumatic intracranial hemorrhage (ICH) during treatment with direct oral anticoagulants (DOACs) is lower than that during warfarin treatment. The characteristics of intracranial hemorrhage during DOAC therapy, however, remain unclear. Therefore, we performed a nationwide survey in Japan to examine the clinical characteristics and outcomes of DOAC-associated ICH using data obtained from the Japanese Diagnosis Procedure Combination (DPC)-based Payment System. Methods: We analyzed the data of 1,567 patients with ICH (DOAC-associated ICH, 88; warfarin-associated ICH, 1,479) who were urgently hospitalized at 575 institutions across Japan from April 2010 to March 2013 for whom prescription data before admission were available. Results: The annual number of patients with all anticoagulant (DOAC or warfarin)- associated ICH in each year from 2010 to 2013 was 226, 252, 426, and 663, representing 15.7%, 15.4%, 16.1%, and 16.1% of all ICH cases in the same period, respectively. There was an increase in the proportion of patients who presented with DOAC-associated ICH in all anticoagulant-associated ICH in each year from 2010 to 2013 (0%→0.4%→3.8%→10.7%). The proportion of patients with impaired consciousness (three-digit score on Japan Coma Scale) at admission (DOAC, 19.3%; Warfarin, 25.4%; P=0.20), in-hospital mortality within 7 days (DOAC, 11.4%; Warfarin, 19.5%; P=0.06), and mRS score of 5-6 at discharge (DOAC, 27.3%; Warfarin, 37.4%; P=0.06) were lower in the patients with DOAC-associated ICH. The rates of surgery for hematoma removal were significantly lower in the patients with DOAC-associated ICH (NOAC, 2.3%; Warfarin, 9.7%; P=0.019). Conclusions: This is the largest nationwide study of DOAC-associated ICH in a real-world situation in Japan, revealing that the patients with DOAC-associated ICH had better clinical outcomes compared with warfarin-associated ICH, probably due to milder hemorrhage at admission.

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 ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

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.

Rheumatological Diseases in Patients with Inborn Errors of Immunity in the USIDNET Registry

2021 ◽  
Author(s):  
Nurcicek Padem ◽  
Hannah Wright ◽  
Ramsay Fuleihan ◽  
Elizabeth Garabedian ◽  
Daniel Suez ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Chronic Mucocutaneous Candidiasis ◽  
Inborn Errors ◽  
Rheumatologic Diseases ◽  
Disease Patterns ◽  
Inborn Errors Of Immunity ◽  
Number Of Patients ◽  
Rheumatological Disease ◽  
Male Patients ◽  
Rheumatological Diseases

Abstract Purpose There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatological diseases. In this study, we report the frequency of rheumatological conditions in a large cohort of patients with IEI using the USIDNET (United States Immunodeficiency Network) registry. Methods We used the USIDNET registry to conduct the analysis. We included all IEI patients within the registry for whom a diagnosed rheumatological disease was reported. Results The total number of patients with IEI in our query was 5058. Among those, 278 (5.49%) patients had a diagnosis of rheumatological disease. This cohort included 172 (61.8%) female and 106 (38.2%) male patients. Rheumatologic complications were highest in the interferonopathies (66.6%), autoimmune lymphoproliferative syndrome (ALPS) (13.7%) and Immunoglobulin G subclass deficiency (IgGSD) (11.11%). Additionally, disease patterns were noted to be different in various IEI disease groups. Inflammatory myopathies were the most common rheumatologic condition in patients with X-linked agammaglobulinemia (1.65%), Sjogren’s syndrome was the most common rheumatology disease reported in ALPS patients (6.85%) and systemic lupus erythematosus was the most common rheumatology disease in in patients with Chronic mucocutaneous candidiasis(CMC) (7.41%). Rheumatoid arthritis (RA) report rate was highest in patients with IgGSD (3.70%), specific antibody deficiency (3.66%), and ALPS (2.74%). Conclusion This study reports that rheumatologic diseases are frequently observed in patients with IEI. The frequency of different rheumatological disease was variable based on the underlying diagnosis. Clinicians caring for patients with IEI should be vigilant to monitor for rheumatologic complications.

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.

scholarly journals Inborn errors of immunity—recent advances in research on the pathogenesis

2021 ◽  
Vol 41 (1) ◽  
Author(s):  
Motoi Yamashita ◽  
Kento Inoue ◽  
Tsubasa Okano ◽  
Tomohiro Morio
Keyword(s):  
Immune System ◽  
Hematopoietic Cell Transplantation ◽  
Epigenetic Modification ◽  
Genetic Disorder ◽  
Loss Of Function ◽  
Inborn Errors ◽  
Whole Genome Analysis ◽  
Curative Therapy ◽  
Inborn Errors Of Immunity ◽  
Recent Advances

AbstractPrimary immunodeficiency (PID) is a genetic disorder with a defect of one of the important components of our immune system. Classical PID has been recognized as a disorder with loss of function of the immune system. Recent studies have unveiled disorders with immune dysfunction with autoimmunity, autoinflammation, allergy, or predisposition to malignancy. Some of them were caused by an augmented immune function or a defect in immune regulation. With this background, the term inborn errors of immunity (IEI) is now used to refer to PID in the International Union of Immunological Societies (IUIS) classification. More than 400 responsible genes have been identified in patients with IEI so far, and importantly, many of them identified lately were caused by a heterologous mutation. Moreover, the onset is not necessarily in childhood, and we started seeing more and more IEI patients diagnosed in adulthood in the clinical settings. Recent advances in genetic analysis, including whole-exome analysis, whole-genome analysis, and RNA-seq have contributed to the identification of the disease-causing gene mutation. We also started to find heterogeneity of phenotype even in the patients with the same mutation in the same family, leading us to wonder if modifier gene or epigenetic modification is involved in the pathogenesis. In contrast, we accumulated many cases suggesting genetic heterogeneity is associated with phenotypic homogeneity. It has thus become difficult to deduce a responsible gene only from the phenotype in a certain type of IEI. Current curative therapy for IEI includes hematopoietic cell transplantation and gene therapy. Other curative therapeutic modalities have been long waited and are to be introduced in the future. These include a small molecule that inhibits the gain-of-function of the molecule- and genome-editing technology. Research on IEI will surely lead to a better understanding of other immune-related disorders including rheumatic diseases and atopic disorders.

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