Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency.

In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730-3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency. PMID: 32476511 [PubMed - as supplied by publisher]
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research

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Lung disease is a frequent clinical manifestation in people living with primary immunodeficiency diseases, the most prevalent of which are common variable immunodeficiency disorders (CVID). CVID is primarily characterised by antibody deficiency, but recent definitions and diagnostic criteria recognise a much more complex pattern of immunological defects [1]. CVID can be classified into two major clinical phenotypes. One group experiences infection as the only major clinical manifestation, whilst the other present a variety of lymphoproliferative, inflammatory and/or autoimmune complications.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research
Primary immunodeficiency diseases are becoming more frequently diagnosed in the adult population. Although infections are the most common symptoms, patients can also present with sequelae of autoimmune and noninfectious pulmonary diseases, such as interstitial lung disease and granulomatous disease. Pulmonologists are likely to encounter patients with various and, at times, subtle symptoms suggestive of immunodeficiency. In this review article, we discuss the presentation, evaluation, and management of 4 antibody deficiencies: common variable immunodeficiency, selective immunoglobulin A deficiency, specific antibody defici...
Source: Clinical Pulmonary Medicine - Category: Respiratory Medicine Tags: Respiratory Infections Source Type: research
We report a case of an adult female who presented initially with the clinical manifestations of granulomatous-lymphocytic interstitial lung disease (GILID) prior to CVID.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M289 Source Type: research
Purpose of review: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. Recent findings: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons. In contrast, STAT3 hyperactivity is not usually related to hyperphosphorylation but rather to increased STAT3-mediated transcriptional activit...
Source: Current Opinion in Pediatrics - Category: Pediatrics Tags: ALLERGY, IMMUNOLOGY AND RELATED DISORDERS: Edited by David B. Lewis Source Type: research
We present three cases where the use of Mycophenolate in the context of autoimmune cytopenias proved beneficial also on the lung disease.
Source: Pediatric Pulmonology - Category: Respiratory Medicine Authors: Tags: CASE REPORT Source Type: research
Common variable immunodeficiency is the most common primary immunodeficiency and consists of impaired immunoglobulin production causing recurrent sinopulmonary infections. The most common cause of mortality for this disorder, however, is from the development of malignancy and autoimmune disorders. One common entity that develops is a systemic granulomatous and lymphoproliferative disorder that can cause an interstitial lung disease more formally referred to as granulomatous-lymphocytic interstitial lung disease (GL-ILD).
Source: Current Problems in Diagnostic Radiology - Category: Radiology Authors: Source Type: research
We describe the use of combined 2‐[(18)F]‐fluoro‐2‐deoxy‐d‐glucose positron emission tomography and computed tomography (FDG PET‐CT) scanning for the assessment and monitoring of response to treatment in a patient with GLILD. This enabled a synergistic combination of functional and anatomical imaging in GLILD and demonstrated a widespread and high level of metabolic activity in the lungs and lymph nodes. Following treatment with rituximab and mycophenolate there was almost complete resolution of the previously identified high metabolic activity alongside significant normalization in lymph node size and lung a...
Source: Clinical and Experimental Immunology - Category: Allergy & Immunology Authors: Tags: Original Article Source Type: research
Abstract STAT proteins are a family of transcription factors that mediate cellular response to cytokines and growth factors. Study of patients with familial susceptibility to pathogens and/or autoimmune diseases has led to the identification of 7 inherited disorders that are caused by mutations of 4 STAT family genes. Homozygous or compound heterozygous mutations of STAT1 lead to complete or partial forms of STAT1 deficiency that are associated with susceptibility to intracellular pathogens and herpetic infections. Patients with heterozygous STAT1 gain-of-function (GOF) mutations usually present with chronic mucoc...
Source: Journal of Leukocyte Biology - Category: Hematology Authors: Tags: J Leukoc Biol Source Type: research
Abstract Common variable immunodeficiency (CVID) is one of the most common primary immunodeficiencies, which is characterized by reduced serum immunoglobulin levels and B‐lymphocyte dysfunction. There are many clinical manifestations of this disease, the most common of which are recurrent respiratory tract infections. Among the most recently recognized autoimmune manifestation of CVID is a disease described as granulomatous‐lymphocytic interstitial lung disease (GLILD), where CVID coexists with a small airway lymphoproliferative disorder, mimicking follicular bronchiolitis, or lymphocytic interstitial pneumonitis (LIP)...
Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
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Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
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