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Case Records of the Massachusetts General Hospital
Case 2-2012 — A 63-Year-Old Woman with Dyspnea and Rapidly Progressive Respiratory Failure
Presentation of Case. Dr. Susan K. Mathai (Internal Medicine): A 63-year-old woman was admitted to this hospital because of rapidly progressive respiratory failure. The patient had a history of Poland syndrome (agenesis of the right breast, pectoralis muscle, and the third and fourth costal…
A 63-year-old woman was admitted to the hospital because of respiratory failure. She had a history of granulomatous polyangiitis and a breast implant that had recently become painful. Imaging revealed bilateral pulmonary infiltrates and a soft-tissue mass extending from the implant through the chest wall.
Clinical Problem-Solving
A Bird's-Eye View of Fever
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 78-year-old man presented to his…
Case Records of the Massachusetts General Hospital
Case 28-2011 — A 74-Year-Old Man with Pemphigus Vulgaris and Lung Nodules
Presentation of Case. Dr. Omobolaji T. Campbell (Infectious Diseases): A 74-year-old man was seen in the surgery clinic at this hospital for evaluation of lung nodules. A diagnosis of pemphigus vulgaris had been made 5 months earlier after a 2-month history of skin lesions that had progressed from…
- CME
Original Article
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency disorder that is characterized by susceptibility to infection of the skin, nails, and mucous membranes by candida species and dermatophytes. There are several CMC subtypes: autosomal recessive autoimmune polyendocrinopathy…
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Autosomal dominant chronic mucocutaneous candidiasis (CMC) is a severe immunodeficiency characterized by mucosal infections with fungi. Mutations affecting a particular region of the STAT1 signaling protein cause autosomal dominant CMC, probably through denting of the responses of type 1 and type 17 helper T cells.
Clinical Problem-Solving
A Recurrent Problem
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 50-year-old woman from Texas had…
- CME
- Video
Case Records of the Massachusetts General Hospital
Case 10-2011 — A Woman with Fever, Confusion, Liver Failure, Anemia, and Thrombocytopenia
Presentation of Case. Dr. Andrea L. Russo (Medicine): A 60-year-old woman was admitted to this hospital because of fever, confusion, liver failure, anemia, and thrombocytopenia. The patient had been in her usual state of health, with a history of hepatitis C virus infection and cirrhosis, until 2…
Original Article
Exposure to Environmental Microorganisms and Childhood Asthma
Environmental exposure to microorganisms has repeatedly been found to be inversely related to the manifestation of atopic diseases such as asthma and hay fever. This observation has been made in various contexts, including the studies conducted in the Republic of Karelia (Russia) and North Karelia (…
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Editorial
Barnyard Microbes and Childhood Asthma
It is easy to imagine why children who are raised on farms might grow up healthy: there is plenty of fresh air, exercise, and exposure to sunlight. In fact, studies from Europe, North America, and Australasia provide convincing evidence that allergic diseases and asthma are less likely to develop…
Case Records of the Massachusetts General Hospital
Case 35-2010 — A 56-Year-Old Man with Cough, Hypoxemia, and Rash
Presentation of Case. A 56-year-old man was admitted to the hospital in the autumn because of cough, hypoxemia, and a rash. The patient had been well until 9 days earlier, when light-headedness, diffuse myalgias, chills, sweats, and extreme fatigue developed, which he thought were related to…
Case Records of the Massachusetts General Hospital
Case 33-2010 — A 22-Year-Old Woman with Blurred Vision and Renal Failure
Presentation of Case. Dr. Meghan E. Sise (Medicine): A 22-year-old woman was admitted to this hospital because of blurred vision and renal failure. The patient had been well until 1 week before admission, when she noted blurred vision in her right eye. The next day, she met with her primary care…
- CME
Correspondence
Dectin-1 Deficiency and Mucocutaneous Fungal Infections
To the Editor: Mucocutaneous candidiasis is commonly seen in persons with deficient T-cell–mediated immunity, including newborn infants, patients with the acquired immunodeficiency syndrome, and those with genetically defined primary T-cell deficiencies. In their Brief Report about human dectin-1…
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Original Article
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Chronic mucocutaneous candidiasis is characterized by impaired clearance of fungal infections and results in colonization and infections of the mucosa or skin, predominantly with Candida albicans. A variety of clinical conditions, such as infection with the human immunodeficiency virus or the use…
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Original Article
Brief Report: Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Recurrent vulvovaginal candidiasis is a relatively common pathological condition, afflicting women of all ages, with more than 90% of cases caused by C. albicans. Although the role of diabetes as a predisposing condition has been recognized, most cases occur in healthy women. Recurrent oral,…
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Editorial
Yeast Infections — Human Genetics on the Rise
We lead inextricably mycotic lives: yeasts leaven our bread, ferment our wine and beer, and inhabit our skins, mouths, and gastrointestinal tracts; however, not all is harmony. Hippocrates reported aphthous ulcers consistent with thrush in patients with severe debilitation, but it was not until the…
Case Records of the Massachusetts General Hospital
Case 29-2009 — An 81-Year-Old Man with Weight Loss, Odynophagia, and Failure to Thrive
Presentation of Case. Dr. Jenica N. Upshaw (Medicine): An 81-year-old man was admitted to the hospital because of cough, weight loss, odynophagia, and failure to thrive. The patient had been in his usual state of health, with diabetes mellitus, until approximately 15 months earlier, when…
An 81-year-old man was admitted to this hospital because of cough and weight loss for 15 months and recent onset of odynophagia and failure to thrive. He had a history of asbestos exposure. Chest imaging showed pleural plaques and bilateral pulmonary opacities. A barium swallow showed an abnormal esophageal mucosal pattern, with a cobblestone appearance, and an abdominal CT scan showed multiple low-attenuation lesions throughout the liver. Additional diagnostic tests were performed.







