scholarly journals A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

2021 ◽  
Vol 12 ◽  
Author(s):  
Waleed Al-Herz ◽  
Mohammad Zainal ◽  
Arti Nanda
Keyword(s):  
Case Reports ◽  
Skin Lesions ◽  
National Registry ◽  
Diagnosis Delay ◽  
Inborn Errors ◽  
Consistent Finding ◽  
Skin Manifestations ◽  
Inborn Errors Of Immunity ◽  
Small Series ◽  
Rag 1

Background and ObjectivesReports on skin manifestations in inborn errors of immunity (IEI) are based on retrospective analysis, small series, or isolated case reports. The present prospective study aimed to determine the spectrum of skin manifestations in children with IEI and their relevance to specific molecular defects.Materials and MethodsThe data were obtained from the Kuwait National Primary Immunodeficiency Disorders Registry during the period of 2004–2020.ResultsA total of 313 pediatric cases of IEI, 71% diagnosed at molecular level, were registered with a cumulative follow-up period of 29,734 months. Skin manifestations were seen in 40.3% of the patients, and they were among the presenting manifestations in 33%. Patients with skin manifestations were older at both onset and diagnosis ages of IEI symptoms, but this was statistically significant for the latter only. The diagnosis delay was significantly longer in patients with skin manifestations. There was a statistically significant association between having skin manifestations and IEI category, being more common in patients with complement deficiencies, combined immunodeficiencies, and diseases of immune dysregulation. There was no statistically significant association between having skin manifestations and both gender and survival. Skin infections were the most frequent manifestations followed by eczema and autoimmune associations. Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency, hyper IgE syndrome, ataxia-telangiectasia, and recombination activation gene (RAG)1 deficiency.ConclusionsSkin manifestations are common in IEI patients, and they had significant diagnosis delay and referral to specialists. Improvement of awareness about IEI is needed among pediatricians and dermatologists.

The Origins of the First Reported Cases of the Primary Immunodeficiency Diseases

2021 ◽  
Author(s):  
Seyed Erfan Rasouli ◽  
Parisa Amirifar
Keyword(s):  
Primary Immunodeficiency ◽  
Case Reports ◽  
Genetic Disorders ◽  
Genetic Defect ◽  
Inborn Errors ◽  
Future Studies ◽  
Inborn Errors Of Immunity ◽  
First Case ◽  
Geographical Dispersion ◽  
First Time

Background: Inborn Errors of Immunity (IEI) or Primary Immunodeficiency Disorders (PID), are heterogeneous diseases with defects on the components of the immune system. We have provided information about the consanguinity and origins of over 400 affected patients for the first time. Methods: To study the genes, we used the classification tables provided by the IUIS (the International Union of Immunological Societies) in 2020, that documents the key clinical and laboratory features of more than 400 inborn errors of immunity. Results: We have identified the national origins of 301 cases with a known gene, while national origins’ information of the 90 other genes (90 cases) was left incomplete, due to the unavailability of the first case reports or the fail to mention the patients’ origin in the article publication of the first report. Among the 301 genes, Asia has the largest geographical dispersion with 103 reported cases. We found that the 101 first case reports, were identified in more than one patient, regardless of the geography they live in. Our survey demonstrated that out of the 165 first reported cases with genetic defects resulted from a consanguineous marriage, 112 cases were identified in Asia. Conclusions: This report provides valuable information on the geographical data and the prevalence of the various genetic disorders, worldwide. Also, by providing information related to parental consanguinity of the first reported cases with a genetic defect, valuable information about inborn errors of immunity, will be accessible for the researchers, which can be used effectively in future studies.

scholarly journals Urticaria-like rash in a patient with COVID-19 associated pneumonia of moderate severity: aspects of pathogenesis

2020 ◽  
Vol 23 (2) ◽  
pp. 109-114
Author(s):  
Ekaterina V. Orlova ◽  
L. M. Smirnova ◽  
N. I. Melikova ◽  
K. Yu. Popova
Keyword(s):  
Clinical Case ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Infection Process ◽  
Moderate Severity ◽  
Skin Manifestations ◽  
General Weakness

In mid 2020, the number of new coronavirus (COVID-19) cases has exceeded globally six million. The clinical manifestations of COVID-19 infection are numerous mostly causing damage to the bronchopulmonary system in the form of a dry cough, rhinitis, dyspnea, fever, myalgia, and general weakness. Skin manifestations of COVID-19 are rare and currently include five types of skin lesions occurring during the infection process, which are reliably recorded in only a limited number of case reports and certain analytical publications. This article describes the clinical case of a 28-year-old patient with urticaria-like disseminated rash and confirmed COVID-19-associated pneumonia.

scholarly journals Cutaneous manifestations in COVID-19 patients in a district COVID care centre

2021 ◽  
Vol 7 (6) ◽  
pp. 805
Author(s):  
Prathyusha Dasari ◽  
Swetha A. Chowdary ◽  
Haritha Samanthula ◽  
Soumya Ruvva
Keyword(s):  
Case Reports ◽  
Severe Disease ◽  
Respiratory Illness ◽  
Maculopapular Rash ◽  
Skin Lesions ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Cutaneous Manifestations ◽  
Skin Manifestations ◽  
Indian Scenario

<p class="abstract"><strong>Background:</strong> COVID-19, initially started as respiratory illness and evolved to involve various systems. Skin has been the least targeted organ with manifestations limited to case reports and series in a foreign scenario. Here, we tried to understand a same in an Indian scenario.</p><p class="abstract"><strong>Methods:</strong> This was cross-sectional study done in district COVID centre among patients with a confirmed diagnosis of COVID-19 with cutaneous manifestations for 3 months. A detailed history, complete cutaneous examination was carried out. Timing in relation to other symptoms and severity was assessed.<strong></strong></p><p class="abstract"><strong>Results:</strong> Among the 1603 patients, 39 (2.4%) had skin manifestations. Urticaria (20.5%), petechiae/purpura (17.9%), pruritis (15.4%) were the most common followed by maculo-papular rash (7.7%), manifestations secondary to drugs (7.7%), diffuse hair fall (7.7%), pseudo-chilblains (5.1%), vesicular eruptions (5.1%), infections (5.1%), cellulitis, gangrene and livedoid vasculitis. Timing of skin lesions ranged from 2 days before (10.3%) onset of COVID-19 symptoms or diagnosis to 10 days after (69.2%). Urticaria, petechiae, maculopapular rash were seen more commonly in patients with fever and respiratory symptoms. Asymptomatic cases showed urticaria, petechiae and pseudo-chilblains. Majority were in mild and moderate disease and livedoid vasculitis patient had severe disease.</p><p class="abstract"><strong>Conclusions:</strong> Skin manifestations in COVID-19 are relatively uncommon in Indian scenario. However, few of the manifestations give a hint of infection while some correlate with the severity of disease.</p>

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.

scholarly journals Small Cell Carcinoma of the Uterine Cervix in a Pregnant Patient Diagnosed with Liquid Based Cytology and Cell Block Immunocytochemistry

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Mawuli F. Attipoe ◽  
Charles D. Sturgis
Keyword(s):  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Uterine Cervix ◽  
Case Reports ◽  
Pregnant Patient ◽  
Small Cell ◽  
Tumor Type ◽  
Cell Block ◽  
Current Case ◽  
Small Series

Definitive cytomorphologic diagnosis of small cell carcinoma of the uterine cervix is possible but can be challenging in routine cervicovaginal cancer screening specimens. Several small series of reported cases of cervical small cell carcinoma have shown this uncommon malignancy to represent fewer than 2% of all invasive cervical cancers. This tumor type is associated with poor prognosis and rapid disease progression and can develop to an advanced stage in the interval between screening visits. Only rare case reports of small cell carcinoma arising in gravid cervices are known. In the current case a 29-year-old, gravida 6, para 2, pregnant (10-week gestation) female presented with postcoital bleeding. A definitive diagnosis of small cell carcinoma of the cervix was made possible by liquid based Pap testing with ancillary cell block preparation allowing for immunocytochemical characterization of the lesional cell population.

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