Refining the dermatological spectrum in primary immunodeficiency: MALT1 deficiency mimicking Netherton- and Omenn syndrome.

This article is protected by copyright. All rights reserved. PMID: 31049936 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research

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ConclusionThe published literature suggests that patients with PIDs can present with severe periodontitis and that conventional treatment approaches have limited benefits.
Source: Clinical Oral Investigations - Category: Dentistry Source Type: research
Publication date: Available online 15 October 2019Source: Genes &DiseasesAuthor(s): Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, Jhumki Das, Amit RawatAbstractCommon variable immunodeficiency disorders (CVID), a heterogeneous group of inborn errors of immunity, is the most common symptomatic primary immunodeficiency disorder. Patients with CVID have highly variable clinical presentation. With the advent of whole genome sequencing and genome wide association studies (GWAS), there has been a remarkable improvement in understanding the genetics of CVID. This has also helped in understanding the pathogenesis...
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 14 October 2019Source: Genes &DiseasesAuthor(s): Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, Babu Mathew, Amit RawatAbstractActivated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary immunodeficiency disease. It has been currently a hot topic of clinical research and new data are emerging regarding its pathogenesis, clinical manifestations and treatment. Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation. It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targe...
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research
Conclusion: Although neutropenia is a rare complication among CVID patients, it is associated with frequent and severe clinical complications, including autoimmunity and lymphoproliferative conditions. Also, its accompaniment with higher mortality frequency in CVID patients indicates a need for more precise attention and consideration regarding specific treatment in neutropenic patients. PMID: 31592698 [PubMed - as supplied by publisher]
Source: Expert Review of Clinical Immunology - Category: Allergy & Immunology Tags: Expert Rev Clin Immunol Source Type: research
Progressive multifocal leukoencephalopathy (PML) is a devastating demyelinating disease of the CNS, which develops almost exclusively in immunocompromised patients and is caused by JC virus (JCV), a common polyomavirus.1 So far, treatment efficacy is only modest if the compromised immune system cannot be restored.2–4 A potential treatment target is the programmed cell death protein 1 (PD-1) whose expression on CD4+ and CD8+ T lymphocytes has been shown to be elevated in patients with PML. Moreover, blocking of the PD-1 receptor resulted in increased JCV-specific T-cell immune response in a subgroup of patients w...
Source: Neurology Neuroimmunology and Neuroinflammation - Category: Neurology Authors: Tags: Clinical/Scientific Notes Source Type: research
The activation of key signaling pathways downstream of antigen receptor engagement is critically required for normal lymphocyte activation during the adaptive immune response. CARD11 is a multidomain signaling scaffold protein required for antigen receptor signaling to NF-κB, c-Jun N-terminal kinase, and mTOR. Germline mutations in the CARD11 gene result in at least four types of primary immunodeficiency, and somatic CARD11 gain-of-function mutations drive constitutive NF-κB activity in diffuse large B cell lymphoma and other lymphoid cancers. In response to antigen receptor triggering, CARD11 transitions from ...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Signal Transduction Source Type: research
CONCLUSION: Current findings suggest that candidate gene approach based on patient's immunophenotype might accelerate molecular diagnosis of SCID patients. Candidate gene selection should be done according to the frequency of disease-causing genes in different populations. Targeted gene panel, WES and WGS methods can be used for the cases which are not diagnosed using this method. PMID: 31589898 [PubMed - as supplied by publisher]
Source: Immunology Letters - Category: Allergy & Immunology Authors: Tags: Immunol Lett Source Type: research
Invasive pneumococcal disease (IPD) in children without known risk factors could be a marker of underlying primary immunodeficiency (PID), according to a systematic review.Reuters Health Information
Source: Medscape Allergy Headlines - Category: Allergy & Immunology Tags: Pediatrics News Source Type: news
Conclusions. We discuss the many considerations inherent to planning for HSCT preceded by liver transplant in patients with primary immunodeficiencies, including the role of prolonged immunosuppression and the risk of infection before immune reconstitution. We also discuss the implications of potential recipient sensitization against donor stem cells precipitated by exposure of the recipient to the donor lymphocytes from the transplanted organ.
Source: Transplantation - Category: Transplant Surgery Tags: Original Clinical Science–Liver Source Type: research
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. Several NGS approaches are available, from the unbiased whole exome sequencing (WES) to specific gene panels. Here, we report on a 3-year experience with clinical exome sequencing (CES) for genetic diagnosis of PIDs. We used the TruSight One sequencing panel, which includes...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
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