Childhood syndrome combining lung disease, arthritis identified

Using the latest genome sequencing techniques, a research team has identified a new autoimmune syndrome characterized by a combination of severe lung disease and arthritis. The hereditary disorder, which appears in early childhood, had never been diagnosed as a single syndrome. The new research revealed that it is caused by mutations in a single gene that disrupt how proteins are shuttled around within cells. Patients with the newly discovered syndrome have a poor prognosis, and at present can only be treated with anti-inflammatory and immunosuppressant drugs. Many have lung disease so severe that they must receive lung transplants.
Source: ScienceDaily Headlines - Category: Science Source Type: news

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CONCLUSION: The diagnostics and treatment of CTD-ILD and PH in patients with an underlying autoimmune disease requires an interdisciplinary approach. The effectiveness of antifibrotic treatment needs to be evaluated in the future. PMID: 30006857 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Rheumatologie - Category: Rheumatology Authors: Tags: Z Rheumatol Source Type: research
A woman with cystic fibrosis and lung transplants suffered chronic pain for three years after she had a tattoo on her thighGetting a tattoo if you have a weakened immune system could put you at risk of complications, doctors have warned. The caution comes after a woman with cystic fibrosis and lung transplants developed thigh and knee pain after having body art inked on her leg.Doctors say those taking immunosuppressant drugs should take precautions if considering body art. These medicines are often given after an organ transplant or to treat autoimmune conditions such as Crohn ’s disease, lupus or rheumatoid arthrit...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Tattoos Medical research Immunology Biochemistry and molecular biology Health Cystic fibrosis Diabetes Source Type: news
This study indicates that frailty and other age-related diseases could be prevented and significantly reduced in older adults. Getting our heart risk factors under control could lead to much healthier old ages. Unfortunately, the current obesity epidemic is moving the older population in the wrong direction, however our study underlines how even small reductions in risk are worthwhile." The study analysed data from more than 421,000 people aged 60-69 in both GP medical records and in the UK Biobank research study. Participants were followed up over ten years. The researchers analysed six factors that could impa...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
​BY ANDRZEJ KIELTYKA, PA; PARDEEP THANDI, MD; &ANUMEHA SINGH, MDA 56-year-old man presented to the emergency department with shortness of breath for one month and pleural effusions on an outpatient chest x-ray. He had been taking adalimumab, methotrexate, and steroids for arthritis and Sjogren's syndrome.A right pleural effusion in a patient with nephrotic syndrome.His monoclonal gammopathy of undetermined significance (MGUS) was monitored annually, but no medical intervention beyond surveillance was required. He had excessive thirst but normal urine output. He noted face and hand swelling in the morning that gave wa...
Source: The Case Files - Category: Emergency Medicine Tags: Blog Posts Source Type: research
In conclusion, most experimental data on immune changes with aging show a decline in many immune parameters when compared to young healthy subjects. The bulk of these changes is termed immunosenescence. Immunosenescence has been considered for some time as detrimental because it often leads to subclinical accumulation of pro-inflammatory factors and inflammaging. Together, immunosenescence and inflammaging are suggested to stand at the origin of most of the diseases of the elderly, such as infections, cancer, autoimmune disorders, and chronic inflammatory diseases. However, an increasing number of gerontologists have chall...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Antisynthetase syndrome is an autoimmune condition, characterized by antibodies directed against an aminoacycl transfer RNA synthetase along with clinical features that can include interstitial lung disease (ILD), myositis, Raynaud’s phenomenon, and arthritis. There is a higher prevalence and increased severity of ILD in patients with antisynthetase syndrome, as compared with dermatomyositis and polymyositis, inflammatory myopathies with which it may overlap phenotypically. The diagnosis is made by a multidisciplinary approach, synthesizing rheumatology and pulmonary evaluations, along with serologic, radiographic, a...
Source: Clinical Pulmonary Medicine - Category: Respiratory Medicine Tags: Interstitial, Inflammatory & Occupational Lung Disease Source Type: research
Abstract Basement membrane components are targets of autoimmune attack in diverse diseases that destroy kidneys, lungs, skin, mucous membranes, joints, and other organs in man. Epitopes on collagen and laminin, in particular, are targeted by autoantibodies and T cells in anti-glomerular basement membrane glomerulonephritis, Goodpasture's disease, rheumatoid arthritis, post-lung transplant bronchiolitis obliterans syndrome, and multiple autoimmune dermatoses. This review examines major diseases linked to basement membrane autoreactivity, with a focus on investigations in patients and animal models that advance our ...
Source: Matrix Biology - Category: Molecular Biology Authors: Tags: Matrix Biol Source Type: research
Idiopathic pulmonary haemosiderosis (IPH) is a rare cause of diffuse alveolar haemorrhage during childhood, and its precise pathophysiology and long‐term clinical course remain unclear. A 31‐year‐old man was diagnosed with IPH at four years of age and had recurrent episodes of haemoptysis. The patient's symptoms responded well to steroids. However, pulmonary fibrosis and the cystic region in the lung progressively worsened. At age 27, the patient developed polyarthritis with positive anti‐cyclic citrullinated peptide antibodies. The patient also developed hand synovitis, which was diagnosed with ultrasonography. Th...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
Idiopathic pulmonary haemosiderosis (IPH) is a rare cause of diffuse alveolar haemorrhage during childhood, and its precise pathophysiology and long‐term clinical course remain unclear. A 31‐year‐old man was diagnosed with IPH at four years of age and had recurrent episodes of haemoptysis. The patient's symptoms responded well to steroids. However, pulmonary fibrosis and the cystic region in the lung progressively worsened. At age 27, the patient developed polyarthritis with positive anti‐cyclic citrullinated peptide antibodies. The patient also developed hand synovitis, which was diagnosed with ultrasonography. Th...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
Pathogenic mutations in cytotoxic T lymphocyte antigen 4 (CTLA4) behave in an autosomal-dominant manner with incomplete penetrance, resulting in a complex immune dysregulation syndrome with disrupted T- and B-cell homeostasis.1-3 Kuehn et al1 identified 7 patients from 4 families with lymphoproliferation, organ infiltration, autoimmune cytopenias, and B-cell abnormalities. Schubert et al2 identified 14 patients from 6 families, of whom 11 had enteropathy and 10 hypogammaglobulinemia; other manifestations included granulomatous lymphocytic interstitial lung disease, respiratory infections, organ infiltration,...
Source: Journal of Allergy and Clinical Immunology - Category: Allergy & Immunology Authors: Tags: Letter to the Editor Source Type: research
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