Chronic granulomatous disorder

Biologic drugs, which are molecules designed to act on specific immune system targets, have been shown to be very effective in treating various dermatological, rheumatological, and systemic diseases. As a group, they have an acceptable safety profile, but their use has been associated with the onset of both systemic and organ-specific inflammatory conditions. True paradoxical reactions are immune-mediated disorders that would usually respond to the biologic agent that causes them. There is still debate about whether certain other adverse reactions can be said to be paradoxical...

Macrophage cell fusion and multinucleation are fundamental processes in the formation of multinucleated giant cells (MGCs) in chronic inflammatory disease and osteoclasts in the regulation of bone mass. However, this basic cell phenomenon is poorly understood despite its pathophysiological relevance. Granulomas containing multinucleated giant cells are seen in a wide variety of complex inflammatory disorders, as well as in infectious diseases. Dysregulation of osteoclastic bone resorption underlies the pathogenesis of osteoporosis and malignant osteolytic bone disease...

Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Monoarthritis or oligoarthritis is the usual pattern, caused by Mycoplasma, Staphylococcus, Streptococcus, Pneumococcus or Haemophilus species...

BACKGROUND AND OBJECTIVE: Melkersson Rosenthal syndrome (MRS) is a rare disorder of unknown etiology and comprises the triad: orofacial edema, recurrent facial paralysis and lingua plicata. In the current literature confusing heterogeneity exists, mixing together the historically grown terms cheilitis granulomatosa or granulomatous cheilitis, Melkersson Rosenthal syndrome and the umbrella term orofacial granulomatosis (OFG). METHODS: We provide a systematic review comprising all three disease entities of orofacial granulomatosis using the computerized database "Pubmed Medline" entering the key words "orofacial granulomatosis" (141 references), "Melkersson-Rosenthal syndrome" (207 references), "granulomatous cheilitis" or "cheilitis granulomatosa" (102 references) back to 1956...

Chronic granulomatous disease (CGD) is a congenital disorder characterized by recurrent life-threatening bacterial and fungal infections and development of severe inflammation secondary to a congenital defect in 1 of the 5 phagocyte oxidase (phox) subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Hematopoietic cell transplant (HCT) is a curative treatment for patients with CGD that provides donor neutrophils with functional NADPH and superoxide anion production. Many characteristics of CGD, including preexisting infection and inflammation and the potential for cure with mixed-donor chimerism, influence the transplant approach and patient outcome...

Chronic granulomatous disease is a rare and potentially fatal disorder of neutrophil function. Beyond current medical management and hematopoietic stem cell transplantation, new methods of gene therapy that use lentiviral vectors or gene editing might extend curative therapies to patients who lack a suitable transplantation donor while eliminating the risk of graft-versus-host disease. Furthermore, new therapies focused on altering the biology of phagolysosomes might offer novel targeted treatments for inflammatory complications in patients with chronic granulomatous disease...

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder identified by recurrent pyogenic and fungal infections infections secondary to defective nicotinamide adenine dinucleotide phosphate oxidase enzyme. In the present study, we demonstrated a case with a history of multiple segmental lung resections because of invasive bronchopulmonary aspergillosis, multifocal hepatic and splenic granulomas, bilateral adnexal calcific foci presumed to be related with old granulomatous infection and finally gastric outlet obstruction secondary to the involvement of the stomach wall thickening with granulomatous tissue...

Sarcoidosis is a multisystem granulomatous disease most frequently affecting the lungs, lymph nodes, and eyes. Skin involvement occurs in approximately 25% to 35% of cases, with the scalp uncommonly affected. Abnormal calcium metabolism is associated with sarcoidosis and other granulomatous disorders and most commonly presents as hypercalciuria (40%-60%) and, less frequently, hypercalcemia (10%-20%). Symptomatic hypercalcemia is unusual, presenting in <5% of sarcoidosis patients, and rarely results in kidney damage...

Ocular disease in Behçet's disease is frequent and may be associated with a poor functional prognosis. Uveitis is the most common ocular manifestation in Behçet's disease and represents a diagnostic criterion of the disease. The ocular involvement is inaugural of the disease in 20% of the cases or may develop 2 to 3 years after the beginning of the extraocular signs. The risk of blindness at 5 years is in the order of 15 to 25%, mainly due to macular involvement or retinal vasculitis. Uveitis may be anterior, intermediate, posterior or panuveitis...

The phagocyte reduced NAD phosphate (NADPH) oxidase generates superoxide, the precursor to reactive oxygen species (ROS) that has both antimicrobial and immunoregulatory functions. Inactivating mutations in NADPH oxidase alleles cause chronic granulomatous disease (CGD), characterized by enhanced susceptibility to life-threatening microbial infections and inflammatory disorders; hypomorphic NADPH oxidase alleles are associated with autoimmunity. Impaired apoptotic cell (AC) clearance is implicated as an important contributing factor in chronic inflammation and autoimmunity, but the role of NADPH oxidase-derived ROS in this process is incompletely understood...

INTRODUCTION: Actinomycosis is a chronic suppurative granulomatous disease caused by Actinomyces israelii. Preoperative confirmed diagnosis is very difficult, so most cases are diagnosed preoperatively as malignant tumors. We report a case of intraabdominal actinomycosis which was difficult to diagnose preoperatively. PRESENTATION OF THE CASE: A woman, 60 years old, experienced discomfort in her lower right abdomen. She complained of nausea and anorexia and visited our hospital...

The CRISPR/Cas9 prokaryotic adaptive immune system and its swift repurposing for genome editing enables modification of any prespecified genomic sequence with unprecedented accuracy and efficiency, including targeted gene repair. We used the CRISPR/Cas9 system for targeted repair of patient-specific point mutations in the Cytochrome b-245 heavy chain gene (CYBB), whose inactivation causes chronic granulomatous disease (XCGD)-a life-threatening immunodeficiency disorder characterized by the inability of neutrophils and macrophages to produce microbicidal reactive oxygen species (ROS)...

PURPOSE: Chronic granulomatous disease (CGD) is an innate immune deficiency disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex that impair the synthesis of oxygen radicals, thus rendering patients susceptible to recurrent infections and excessive hyperinflammatory responses. The most common autosomal recessive form of CGD is p47phox deficiency, which is often clinically milder than the more common X-linked recessive form. Here, we report data on genetics, clinical and biochemical findings in 17 CGD patients of Kavkazi origin with the nonsense mutation c...

Chronic granulomatous disease (CGD) is a phagocytic disorder characterized by a defective production of reactive oxygen species (ROSs). Although infections and granuloma formation are the most common manifestations in CGD patients, a significant number of patients experienced autoimmunity and inflammatory diseases suggesting that adaptive immune abnormalities might be involved. Here we investigated T-cell compartment and showed that CGD patients had a skewed TCRV-beta distribution in CD8+ T cells, particularly in older patients, and a reduced proliferative responses toward mitogens compared to healthy donors (HD)...

BACKGROUND: Primary immunodeficiency diseases are a group of genetic disorders that lead to increased propensity to a variety of infections, sometimes with fatal outcomes. METHOD: In this study, whole-exome sequencing (WES) was used to identify mutations in two patients suspected of having primary immunodeficiency. Sanger sequencing was used to confirm the results in the patients and their family. RESULT: One patient was diagnosed as X-linked severe combined immunodeficiency (X-SCID) and another patient as X-linked chronic granulomatous disease (X-CGD) by WES...

BACKGROUND: Takayasu arteritis is a rare, chronic, granulomatous systemic vasculitis of unknown etiology and a few cases have been reported in pregnancy. In pregnancies concomitant with Takayasu arteritis or after diagnosis, Takayasu arteritis negatively affects pregnancy by increasing 13-fold the odds of complications such as hypertensive disorders. The best recommendations in this scenario are still to be made. CASE PRESENTATION: We present a case of 21-year-old, gravid 1, Mexican woman of Mestizo descent with chronic hypertension diagnosed since she was 15-years old who presented severe hypertension during pregnancy (early second trimester); the diagnosis of hypertensive disorder of pregnancy was ruled out requiring first-line and second-line antihypertensive therapy without serious associated maternal or fetal morbidity...

Pseudogenes are duplicated genes with mutations rendering them nonfunctional. For single-gene disorders with homologous pseudogenes, the pseudogene might be a target for genetic correction. Autosomal-recessive p47phox -deficient chronic granulomatous disease (p47-CGD) is a life-threatening immune deficiency caused by mutations in NCF1 , a gene with 2 pseudogenes, NCF1B and NCF1C . The most common NCF1 mutation, a GT deletion (ΔGT) at the start of exon 2 (>90% of alleles), is constitutive to NCF1B and NCF1C ...

Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder causing recurrent infections. More than one-quarter of patients develop hepatic abscesses and liver dysfunction. Recent reports suggest that disease-modifying treatment with corticosteroids is effective for these abscesses. Comparison of corticosteroid therapy to traditional invasive treatments has not been performed. Methods: Records of 268 patients with CGD treated at the National Institutes of Health from 1980 to 2014 were reviewed...

Sarcoidosis is a chronic, multisystemic, granulomatous disorder. Our patient was a 2-year-old girl with multiple airway conditions and a partial response to inhaled and systemic steroids. She was positive for acute phase reactants and negative for antibodies. Polymerase chain reaction revealed atypical Mycobacteria and she was negative for Mycobacterium tuberculosis. Laryngeal sarcoidosis was diagnosed by histopathology in a biopsy of larynx that revealed a chronic granulomatous inflammatory process with Langhans giant cells and acute and ulcerated areas with changes compatible with tuberculosis...