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Emerg Infect Dis 2019 May;25(5):976-979

Granulibacter bethesdensis is a pathogen reported to cause recurrent lymphadenitis exclusively in persons with chronic granulomatous disease. We report a case of fatal meningitis caused by a highly virulent G. bethesdensis strain in an adolescent in Europe who had chronic granulomatous disease. Read More

Clin Case Rep 2019 Apr 20;7(4):695-698. Epub 2019 Feb 20.

2nd Department of Dermatology and Venereology, General Hospital "Papageorgiou", Medical School Aristotle University of Thessaloniki Thessaloniki Greece.

Palisaded neutrophilic granulomatous dermatitis is a cutaneous marker of a systemic disease. Clinicians' goal should be directed toward determining an underlying condition. Even if the initial investigation is inconclusive, it may be necessary that some tests are repeated, since a serious underlying disease could be revealed in the course of time. Read More

Blood Adv 2019 Apr;3(8):1272-1284

Department of Internal Medicine.

Deficiency of the Nox2 (gp91phox) catalytic subunit of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase is a genetic cause of X-linked chronic granulomatous disease, a condition in which patients are prone to infection resulting from the loss of oxidant production by neutrophils. Some studies have suggested a role for superoxide derived from Nox2 NADPH oxidase in platelet activation and thrombosis, but data are conflicting. Using a rigorous and comprehensive approach, we tested the hypothesis that genetic deficiency of Nox2 attenuates platelet activation and arterial thrombosis. Read More

Antimicrob Agents Chemother 2019 Apr 15. Epub 2019 Apr 15.

Public Health Research Institute, Rutgers Biomedical and Health Sciences, Newark, NJ, USA

Isavuconazole, the active moiety of the prodrug, isavuconazonium sulfate, has potent activity against a wide spectrum of fungal pathogens and is approved for the treatment of invasive aspergillosis. Yet, little is known for tissue penetration of isavuconazole at the target sites of infection. Herein, we explored spatial and quantitative distribution of isavuconazole in tissue lesions in experimental pulmonary aspergillosis established in mice with chronic granulomatous disease (CGD) (gp91). Read More

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Mar 1. Epub 2019 Mar 1.

Department of Stomatology and Oral and Maxillofacial Surgery, Hospital Metropolitano Odilon Behrens (HMOB), Belo Horizonte, MG, Brazil.

Orofacial granulomatosis (OFG) is a chronic inflammatory disease that typically affects the soft tissues of the orofacial region. The most common clinical manifestation of OFG is lip swelling, which may be associated with intrabuccal ulcerations and increased growth of the gingiva and mucosa, as well as cutaneous erythema and facial edema. The treatment for OFG is challenging, and sometimes considered unsatisfactory. Read More

Front Pediatr 2019 28;7:107. Epub 2019 Mar 28.

Division of Pediatric Allergy and Immunology, Department of Pediatrics, Penn State Milton S. Hershey Medical Center, Hershey, PA, United States.

Chronic Granulomatous Disease (CGD) is caused by genetic defects in the phagocyte NADPH oxidase leading to potentially severe infections with catalase positive micro-organisms. With the innate immune system being affected this disease usually presents before the age of 5 years with infections involving the skin, lung, liver or lymphnodes. Infections with specific catalase positive organisms, especially and prompt a workup for CGD in affected patients. Read More

Pediatr Int 2019 Apr 14. Epub 2019 Apr 14.

Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.

J Autoimmun 2019 Apr 8. Epub 2019 Apr 8.

Gastroenterology & Hepatology Department Hamad Medical Corporation, Qatar; Weill Cornell Medical College, Qatar Br, Qatar. Electronic address:

Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease, diagnosed by the presence of anti-mitochondrial antibodies (AMA) or highly PBC-specific anti-nuclear antibodies, in the appropriate context of cholestatic liver biochemistry. We present a case with histological features of destructive granulomatous lymphocytic cholangitis affecting interlobular and septal bile ducts suggestive of PBC, with strong positive AMA, Anti-M2 and anti-nuclear dot, but with persistently normal alkaline phosphatase (ALP). On the contrary to previous reports suggesting that those individuals in whom ALP remains persistently below 1. Read More

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):122-125

Department of Oral Pathology and Microbiology, Mamata Dental College, Khammam, Telangana, India.

Mucormycosis is an opportunistic fulminant fungal infection which mainly affects the immunocompromised individuals. It begins in the nose and paranasal sinuses due to the inhalation of fungal spores. The common predisposing factors include diabetes mellitus and immunosuppression. Read More

Scand J Immunol 2019 Apr 8:e12767. Epub 2019 Apr 8.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

One of the components of NADPH-oxidase is p47-phox; encoded by NCF1 gene. This study aims to find new genetic changes and clinical features in 38 Iranian patients with autosomal recessive chronic granulomatous disease (AR-CGD) caused by NCF1 gene defect. Patients who had abnormal NBT and DHR-1,2,3 assay with loss of p47-phox in western blotting were included in this study. Read More

Blood 2019 Apr 5. Epub 2019 Apr 5.

Paediatric BMT, Great North Children's Hospital, United Kingdom.

BMJ Case Rep 2019 Apr 3;12(4). Epub 2019 Apr 3.

Department of Ear, Nose and Throat Surgery, Monash Health, Clayton, Victoria, Australia.

Chronic non-granulomatous supraglottitis (CNGS) is a rare disorder of the supraglottic larynx, characterised by chronic supraglottic inflammation in the absence of granulomata, vasculitis, neoplasia, autoimmune disease or infective changes on histology. We present the case of a male adolescentwho attended with progressively worsening exertional dyspnoea, stridor and symptoms of obstructive sleep apnoea. Flexible nasendoscopy revealed marked supraglottic subepithelial thickening sparing the glottis and subglottis, confirmed on microlaryngoscopy. Read More

Dis Markers 2019 3;2019:8565423. Epub 2019 Mar 3.

Department of Clinical Medicine and Immunological Sciences, Respiratory Disease and Lung Transplant Unit, Respiratory Diseases and Transplant Unit, Siena University, Siena, Italy.

Purpose: Sarcoidosis is a systemic granulomatous disease with unknown etiology. Many clinical presentations have been reported, and acute disease needs to be distinguished from subacute and chronic disease. The unpredictable clinical course of the disease prompted us to evaluate the clinical utility of biomarker serum detection in sarcoidosis follow-up. Read More

BJR Case Rep 2018 Dec 10;4(4):20180027. Epub 2018 Jul 10.

Department of Radiology, Kasr Elainy, Faculty of medicine, Cairo university, Giza, Egypt.

Rhinoscleroma is a chronic granulomatous bacterial infection caused by the gram-negative bacillus . It predominately involves the nasal cavities but it can also involve the rest of the upper respiratory tract. Hypertrophic stage of rhinoscleroma may cause large tumor masses which could mimic neoplasm. Read More

Clin Exp Immunol 2019 Mar 29. Epub 2019 Mar 29.

Department of Hematopoiesis, Sanquin Research, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in any of the genes encoding the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, responsible for the production of reactive oxygen species (ROS). CGD is marked by invasive bacterial and fungal infections and by autoinflammation/autoimmunity, of which the exact pathophysiology remains elusive. Contributing factors include decreased neutrophil apoptosis, impaired apoptotic neutrophil clearance, increased proinflammatory protein expression and reduced ROS-mediated inflammasome dampening. Read More

BMC Ophthalmol 2019 Mar 29;19(1):83. Epub 2019 Mar 29.

Department of Ophthalmology & Visual Science Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan.

Background: To report 2 cases of bilateral granulomatous panuveitis accompanied by chronic active Epstein-Barr virus infection (CAEBV).

Case Presentation: Case 1 was a 38-year-old man who had a history of bilateral mild panuveitis who was diagnosed with CAEBV. Fifteen months later, a severe bilateral granulomatous panuveitis developed. Read More

Laryngoscope 2019 Mar 26. Epub 2019 Mar 26.

Head and Neck Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

Chronic laryngitis commonly presents with dysphonia, and infectious causes include tuberculosis and endemic mycoses. We present a 58-year-old female with laryngitis for 5 years, fevers, chills, fatigue, malaise, myalgias, anterior neck pain, and night sweats after multicontinent exposure. Bronchoscopy cultures were negative. Read More

Int Arch Allergy Immunol 2019 Mar 22:1-12. Epub 2019 Mar 22.

Cell and Molecular Biology Group, Airways Disease Section, National Heart and Lung Institute, Imperial College London, London, United Kingdom,

Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1. Read More

J Clin Immunol 2019 Mar 21. Epub 2019 Mar 21.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.

J Breath Res 2019 Mar 22. Epub 2019 Mar 22.

Norwich Medical School, University of East Anglia, Norwich, UNITED KINGDOM OF GREAT BRITAIN AND NORTHERN IRELAND.

Introduction: Sarcoidosis is a chronic granulomatous disease of unknown aetiology with a variable clinical course and prognosis. There is a growing need to identify non-invasive biomarkers to differentiate between clinical phenotypes, identify those at risk of disease progression and monitor response to treatment.

Objectives: We undertook a systematic review and meta-analysis, to evaluate the utility of breath-based biomarkers in discriminating sarcoidosis from healthy controls, alongside correlation with existing non-breath based biomarkers used in clinical practice, radiological stage, markers of disease activity and response to treatment. Read More

Eur Arch Otorhinolaryngol 2019 Mar 21. Epub 2019 Mar 21.

Department of Otorhinolaryngology, Munich University (LMU), Munich, Germany.

Background: Sarcoidosis is a chronic disease, which predominantly affects the lung. Since sinonasal sarcoidosis is rare, little is known about the sarcoidosis manifestation at this site. Therefore, the aim of our study was to detect the prevalence of sinonasal sarcoidosis, its clinical occurrence, diagnosis, and therapy. Read More

Blood 2019 Mar 21. Epub 2019 Mar 21.

Departments of Pediatrics and of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO, United States

Primary immunodeficiencies affecting the function of neutrophils and other phagocytic leukocytes are notable for an increased susceptibility to bacterial and fungal infections as a result of impaired leukocyte recruitment, ingestion, and/ or killing of microbes. The underlying molecular defects can also impact other innate immune responses to infectious and inflammatory stimuli, leading to inflammatory and autoimmune complications that are not always directly related to infection. This review will provide an update on congenital disorders affecting neutrophil function where a combination of host defense and inflammatory complications are prominent, including NADPH oxidase defects in chronic granulomatous disease and β2 integrin defects in leukocyte adhesion deficiency. Read More

Stem Cells 2019 Mar 20. Epub 2019 Mar 20.

National Research Council (CNR)-IRGB/UOS of Milan, Milan, Italy.

In spite of the progresses in gene editing achieved in recent years, a subset of genetic diseases involving structural chromosome abnormalities, including aneuploidies, large deletions and complex rearrangements, cannot be treated with conventional gene therapy approaches. We have previously devised a strategy, dubbed chromosome transplantation (CT), to replace an endogenous mutated chromosome with an exogenous normal one. To establish a proof of principle for our approach, we chose as disease model the chronic granulomatous disease (CGD), an X-linked severe immunodeficiency due to abnormalities in CYBB (GP91) gene, including large genomic deletions. Read More

World J Gastrointest Pharmacol Ther 2019 Mar;10(2):35-49

Programa de Pós graduação em Medicina e Saúde, Universidade Federal da Bahia, Salvador 40110-060, Bahia, Brazil.

Crohn's disease with involvement of the esophagus, stomach and duodenum has a prevalence of 0.5% to 4% in symptomatic adult patients, but some studies have shown that these results may be underestimated, since upper gastrointestinal endoscopy is not performed routinely in the initial evaluation of the disease in adult patients, as it is in the pediatric population. In general, involvement of the upper gastrointestinal tract in Crohn's disease occurs concomitantly with involvement of the lower gastrointestinal tract. Read More

Acta Biomed 2019 Jan 23;90(1):11-15. Epub 2019 Jan 23.

"P.GIACCONE" University Hospital, Palermo, Italy.

Idiopathic granulomatous mastitis (IGM) is a chronic benign inflammatory disease of the breast that may mimic breast cancer. It is most common in parous young fertile women, although it can occur in nulliparous women and in men. IGM is an idiopathic disease due to the influence of some environmental factors in genetically predisposed subjects. Read More

Acta Gastroenterol Belg 2019 Jan-Mar;82(1):93-95

Centro Hospitalar de São João, Gastroenterology Department, Porto WGO Training Center, Porto Medical School, University of Porto.

The authors report the case of a 76 year-old man with rheumatoid arthritis treated with prednisolone and etanercept. The patient was seen for persistent changes in liver tests lasting for six months, with a mixed pattern. The patient denied intake of new drugs or dietary/herbal supplements. Read More

Mycopathologia 2019 Mar 18. Epub 2019 Mar 18.

Department of Dermatology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.

Mycetoma is a chronic granulomatous infectious disease that can affect the skin, subcutaneous tissue, fascia and bone. It can be caused by filamentous bacteria or fungi and usually involves the legs and feet. Mycetoma is endemic in tropical and subtropical regions and is easily misdiagnosed in clinical practice because of its nonspecific clinical features and lack of awareness of the disease. Read More

Antimicrob Agents Chemother 2019 Mar 18. Epub 2019 Mar 18.

Molecular Microbiology Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States of America

Emergence of azole-resistance in as well as an increasing frequency of multi-resistant cryptic spp. necessitates exploration of new classes of antifungals. Olorofim (formerly F901318) is a new fungicidal agent that prevents growth of ascomycetous mold species via inhibition of de novo pyrimidine biosynthesis, a mechanism of action distinct from currently available antifungal drugs. Read More

Acta Clin Belg 2019 Mar 18:1-3. Epub 2019 Mar 18.

b Department of Gastroenterology , University hospital Gasthuisberg , Leuven , Belgium.

Background: It is well known that Crohn's disease can involve the stomach. However, most often this upper gastrointestinal tract involvement is asymptomatic. Typically, there is involvement of the small intestine with the typical associated symptoms of Crohn's disease: abdominal cramps, diarrhoea and weight loss. Read More

Front Immunol 2019 1;10:188. Epub 2019 Mar 1.

Division of Medicine, University College London, London, United Kingdom.

The phagosome microenvironment maintains enzyme activity and function. Here we compared the phagosomal pH of human neutrophils, monocytes, dendritic cells (DC), and monocyte-derived cells. An unexpected observation was the striking difference in phagosomal environment between the three monocytes subsets. Read More

J Clin Immunol 2019 Feb 13;39(2):195-199. Epub 2019 Mar 13.

Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

X-linked chronic granulomatous disease (XL-CGD), a rare primary immunodeficiency due to a defect in the gp91 NADPH oxidase subunit, results in recurrent, severe infection, inflammation, and autoimmunity. Patients have an absent, or significantly reduced, neutrophil oxidative burst. Due to lyonization, XL-CGD carriers have a dual population of functional and non-functional phagocytes and experience a range of symptoms including increased risk of autoimmunity, fatigue, and infection. Read More

Mol Ther Methods Clin Dev 2019 Jun 10;13:274-278. Epub 2019 Feb 10.

Division of Immunology, University Children's Hospital Zurich, 8032 Zurich, Switzerland.

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations of the phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Autosomal recessive p47 -deficient CGD (p47 CGD) is the second most frequent form of the disease in western countries, and more than 94% of patients have a disease-causing dinucleotide deletion (ΔGT) in the neutrophil cytosolic factor 1 () gene. The ΔGT mutation is most likely transferred onto the from one of its two pseudogenes co-localized on the same chromosome. Read More

Laryngoscope 2019 Mar 9. Epub 2019 Mar 9.

Department of Otolaryngology-Head and Neck Surgery, Augusta University, Augusta, Georgia.

A review of the treatment of allergic and invasive fungal sinusitis, as well as a presentation of the first recorded case of a conversion from allergic fungal sinusitis (AFS) to chronic granulomatous invasive sinusitis and the fourth case of invasive fungal sinusitis associated with Curvularia. This immunocompetent patient suffering from chronic AFS converted after repeated high-dose steroid tapers and noncompliance. AFS may present atypically and should be suspected even in immunocompetent patients with sinus disease who report new onset pain and neurologic symptoms. Read More

World J Gastroenterol 2019 Feb;25(8):1031-1036

Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment. Read More

Arkh Patol 2019;81(1):65-70

Pulmonology Research Institute, Federal Biomedical Agency of Russia, Moscow, Russia; A.S. Loginov Moscow Clinical Research and Practical Center, Moscow Healthcare Department, Moscow, Russia; Research Institute of Human Morphology, Moscow, Russia; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Russia.

Granulomatous diseases are a heterogeneous group of the diseases of different etiology, which are manifested by a variety of clinical syndromes and variants of tissue changes, by non-uniform sensitivity to therapy, and by the predominance of the common dominant histologic sign - the presence of granulomas that determine the clinical and morphological essence of each disease. Granuloma is a chronic inflammatory response, which involves macrophages and other inflammatory cells. After exposure to an antigen, T-lymphocytes, macrophages, epithelioid cells, and multinucleated giant cells are activated, resulting in the formation of granulomas. Read More

Int J Pediatr Otorhinolaryngol 2019 May 20;120:162-165. Epub 2019 Feb 20.

Division of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Otolaryngology, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:

Chronic epiglottitis and supraglottitis are clinical entities that present with respiratory distress and are primarily associated with autoimmune disorders, gastroesophageal reflux disease, or angioedema. First described in adults with sarcoidosis in 2010, CO2 laser epiglottis resurfacing has been effective in reducing epiglottic edema. We present two cases of adolescent males with non-granulomatous chronic supraglottitis who were successfully treated with CO2 laser supraglottic resurfacing. Read More

Eur J Breast Health 2019 Jan 5;15(1):32-36. Epub 2018 Nov 5.

Department of Pathology, İzmir Katip Çelebi University School of Medicine, İzmir, Turkey.

Objective: Granulomatous mastitis is a rare, benign, chronic inflammatory disease of the breast of unknown etiology. This study evaluated bacteriologic agents that might play a role in the etiology of granulomatous mastitis using a molecular method with a universal primer after isolating deoxyribonucleic acid (DNA) from pathology specimens from patients diagnosed with granulomatous mastitis.

Materials And Methods: Breast biopsy material in the pathology department obtained between July 2008 and June 2013 was analyzed. Read More

Inflamm Bowel Dis 2019 Feb 23. Epub 2019 Feb 23.

Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, London, United Kingdom.

Background: Orofacial granulomatosis (OFG) is a rare disease characterised by chronic, noncaseating, granulomatous inflammation primarily affecting the oral cavity. Histologically, it is similar to Crohn's disease (CD), and a proportion of patients have both OFG and CD. The cause of OFG remains elusive, but it has been suggested that microbial interactions may be involved. Read More

New Microbiol 2019 Jan 20;42(1):55-60. Epub 2019 Feb 20.

Laboratory of Microbiology and Virology, National Institute of Gastroenterology "S. De Bellis", Research Hospital, Castellana Grotte, Bari 70013, Italy.

Actinomycosis is a rare, chronic and slowly progressive granulomatous disease caused by Actinomyces spp., a Gram-positive anaerobic bacterium that rarely affects the esophagus. Although this infection is uncommon, it has been reported in both immunocompromised and immunocompetent individuals. Read More

Front Pediatr 2018 31;6:429. Epub 2019 Jan 31.

Division of Pediatric Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center, Golisano Children's Hospital, Rochester, NY, United States.

Here we describe two term male infants diagnosed with X-linked CGD who present, in addition to frequent infection, with a unique papulopustular skin rash. CGD is caused by a number of genetic defects that impair phagocyte function. This disease results in recurrent infections and granuloma formation. Read More

Front Immunol 2019 29;10:73. Epub 2019 Jan 29.

Department of Infectious Diseases, Huashan Hospital, Fudan University, Shanghai, China.

Disseminated Bacillus Calmette-Guérin disease (D-BCG) in children with chronic granulomatous disease (CGD) can be fatal, while its clinical characteristics remain unclear because both diseases are extremely rare. The patients with CGD receive BCG vaccination, because BCG vaccination is usually performed within 24 h after delivery in China. We prospectively followed-up Chinese patients with CGD who developed D-BCG to characterize their clinical and genetic characteristics. Read More

Am J Respir Cell Mol Biol 2019 Feb 11. Epub 2019 Feb 11.

East Carolina University, Dept of Internal Medicine, Greenville, North Carolina, United States ;

We established a murine model of multiwall carbon nanotube (MWCNT)-elicited chronic granulomatous disease which bears similarities to human sarcoidosis pathology including alveolar macrophage deficiency of peroxisome-proliferator-activated receptor gamma (PPARγ). Because lymphocyte reactivity to mycobacterial antigens has been reported in sarcoidosis, we hypothesized that addition of mycobacterial Early Secreted Antigenic Target Protein 6 (ESAT-6) to MWCNT might exacerbate pulmonary granulomatous pathology. MWCNT with or without ESAT-6 peptide-14 were instilled by oropharyngeal route into macrophage-specific PPARγ KO or wild-type mice. Read More

Arch Dis Child Educ Pract Ed 2019 Feb 7. Epub 2019 Feb 7.

Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.

Children with primary immunodeficiency syndromes present with broad variation of clinical features and the consequences are often severe if not promptly recognised. Here, support is provided for the general paediatrician to recognise primary immunodeficiencies among the many children they meet in their clinical practice. Read More

Pediatr Allergy Immunol 2019 Feb 4. Epub 2019 Feb 4.

China National Clinical Research Center for Respiratory Diseases, Beijing, China.

Background: Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.

Methods: Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016. Read More

BMJ Case Rep 2019 Jan 28;12(1). Epub 2019 Jan 28.

Internal Medicine, Maricopa Integrated Health System, Phoenix, Arizona, USA.

Aortitis and pachymeningitis are uncommon manifestations of the antineutrophil cytoplasmic antibody-associated vasculitides, a group of systemic autoimmune diseases mainly affecting small vessels. We present a case of a 71-year-old woman with a remote history of idiopathic chronic granulomatous pachymeningitis complicated with aortic thickening due to autoimmune aortitis. Read More

Hosp Pract (1995) 2019 Apr 6;47(2):99-103. Epub 2019 Feb 6.

d Pathology , Lehigh Valley Health Network , Allentown , PA , USA.

Hypertrophic pachymeningitis (HP) is a chronic, progressive diffuse inflammatory condition that leads to thickening of the dura mater and can be idiopathic or associated with sarcoidosis among other disorders. In this case report, we present a rare case of cervical spine HP in a 29-year-old woman in the post-partum period, who had a history of pituitary adenoma and juvenile rheumatoid arthritis. Magnetic resonance imaging (MRI) of the spine revealed a soft tissue mass and moderate cord compression. Read More

Autophagy 2019 Jan 25:1-16. Epub 2019 Jan 25.

a Department of Immunology , School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China.

Macroautophagy/autophagy is a conserved ubiquitous pathway that performs diverse roles in health and disease. Although many key, widely expressed proteins that regulate autophagosome formation followed by lysosomal fusion have been identified, the possibilities of cell-specific elements that contribute to the autophagy fusion machinery have not been explored. Here we show that a macrophage-specific isoform of the vacuolar ATPase protein ATP6V0D2/subunit d2 is dispensable for lysosome acidification, but promotes the completion of autophagy via promotion of autophagosome-lysosome fusion through its interaction with STX17 and VAMP8. Read More

Biomed Rep 2019 Feb 7;10(2):127-132. Epub 2019 Jan 7.

Laboratory of Immunology, Faculty of Biological and Chemical Sciences, Autonomous University of Sinaloa, Culiacán, Sinaloa 80010, México.

Leprosy, a human chronic granulomatous disease caused by , remains endemic in certain countries despite the use of multidrug therapy. Recently, several host genes modulating the immune responses to infection have been suggested to influence the acquisition and clinical course of leprosy. Lymphoid protein tyrosine phosphatase, encoded by the protein tyrosine phosphatase non-receptor type 22 () gene, serves a negative regulatory role in T cell activation. Read More

Case Rep Med 2018 23;2018:6465180. Epub 2018 Dec 23.

Department of Pulmonary and Critical Care Medicine-Jefferson Health, Abington, PA, USA.

Sarcoidosis is a multisystem granulomatous disease of unknown origin. It typically involves the lungs and mediastinal lymph nodes in a chronic fashion. However, acute syndrome has been reported possibly in response to systemic release of proinflammatory cytokines. Read More

Drug Discov Ther 2018 ;12(6):374-378

Department of Medicine, All India Institute of Medical Sciences.

Mucormycosis is an uncommon aggressive fungal infection usually seen in immunocompromised hosts or patients with burns and trauma. The common presentations include rhino-orbital-cerebral and pulmonary involvement. Osteoarticular involvement is a rare presentation of this disease. Read More