We report the case of a 20-year-old female with disseminated Mycobacterium avium disease involving bones, lungs and brain. She was completely healthy up until the present illness and had been vaccinated with BCG in infancy without complications. Mycobacteriosis progressed in spite of treatment with antituberculous drugs and was controlled only after addition of interferon-γ subcutaneously. A homozygous hypomorphic I87T mutation was found in the gene encoding the ligand-binding chain of the IFN-γ receptor (IFNγR1). This mutation is the only known recessive hypomorphic lesion in IFNGR1 and had been reported before in only 1 child with curable BCG infection and his sibling with primary tuberculosis. Our report illustrates the clinical heterogeneity of patients sharing exactly the same form of partial recessive IFNγR1 deficiency. A diagnosis of partial recessive IFNγR1 deficiency should be contemplated in adults with unexplained environmental mycobacterial diseases.
MTX as a single agent in the treatment of sarcoidosis has proved to be a safe and effective steroid alternative. Selected patients with chronic pulmonary sarcoidosis experience definite PFT improvements after MTX treatment. There is need to search for predictors of MTX treatment effectiveness.
Three patients with exogenous lipoid pneumonia are presented. All of them had laryngectomy because of the cancer of larynx. In a period of time ranging from a few months up to a few years after the operation they started to have dyspnoea, cough, sometimes hemoptysis and slightly elevated temperature. The chest X-ray revealed massive opacities in the lower zones of both lungs suggesting lung cancer or metastases of the laryngeal cancer. HRCT showed ground glass lesions. Histological examination of the lungs detected accumulation of multiple macrophages with vacuolated foamy cytoplasms in the alveoli. Neoplastic disease was excluded. Additional data from the patients history revealed that all of them were inhaling or administering mineral oil-containing products through the tracheostomy. Exogenous lipoid pneumonia was diagnosed. Patients were asked to stop inhalations with the mineral oil.
Allergen immunotherapy has been shown to be successful in numerous clinical trials, even leading to complete relief of allergic symptoms. However, the molecular mechanisms behind these outcomes remain unclear, substantially hindering introduction of more efficient and safer protocols. The current gold standard of assessing the effects of allergen immunotherapy is a challenge test, which might be both unpleasant and dangerous for patients. Better understanding of the molecular background of allergen immunotherapy would allow us to substitute challenge tests with biomarkers. These might also be used to predict a patient's response to the treatment. Here, we review current knowledge regarding immune responses to allergen immunotherapy and its potential biomarkers. StreszczenieImmunoterapia alergenowa wykazała skuteczność w licznych badaniach klinicznych, prowadząc nawet do całkowitego ustąpienia objawów alergii. Mimo to, precyzyjne mechanizmy jej działania są niewyjaśnione, co wyraźnie utrudnia wdrożenie nowych, skuteczniejszych i bezpieczniejszych protokołów terapeutycznych. Obecnie złotym standardem w ocenie skuteczności immunoterapii jest przeprowadzenie próby prowokacyjnej z danym alergenem, co może być zarówno niekomfortowe, jak i niebezpieczne dla pacjenta. Lepsze zrozumienie komórkowych podstaw immunoterapii umożliwiłoby zastąpienie prób prowokacyjnych zastosowaniem biomarkerów, które mogłoby również posłużyć do przewidywania odpowiedzi danego pacjenta na leczenie. W niniejszej pracy autorzy dokonują przeglądu obecnej wiedzy na temat mechanizmów działania, przyczyn niepowodzenia, a także potencjalnych biomarkerów immunoterapii alergenowej.
Sarcoidosis is a multiorgan inflammatory disease that rarely involves the musculoskeletal system. A typical radiographic presentation is only noted with phalangeal lesions in the hands and feet, and other skeletal sites of sarcoidosis are a diagnostic imaging challenge [1]. We describe two cases of patients with sarcoidosis in whom pathologic bone marrow lesions were diagnosed on MRI scans. The magnetic resonance findings were non-specific and metastatic lesions or multiple myeloma were suspected. The case analysis serves to point to limitations of imaging studies in diagnosing bone sarcoidosis and underline the importance of cooperation between the radiologist and the clinician. The role of magnetic resonance imaging in the diagnostic algorithm for bone sarcoidosis should mostly focus on locating lesions, indicating biopsy sites and follow-up of abnormalities.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.