Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recurrent respiratory infections (RRIs) are a common and benign condition affecting about 6% of schoolchildren. Only mild, likely postinfective, modifications of the immune system have been proven, and parents should be reassured that the condition is self-limited. Nevertheless, if not correctly diagnosed, children may undergo several unnecessary investigations and multiple antibiotic courses. On the other hand, in some cases, efforts should be made to identify promptly possible underlying disease, including congenital or acquired immunodeficiency, vascular or airways malformation, tuberculosis, cystic fibrosis, or immotile-cilia syndrome. Careful medical history and clinical examination are usually sufficient to distinguish RRIs and no further research is generally needed. In uncertain cases a complete blood count with differential and the evaluation of total immunoglobulin serum levels are sufficient to exclude neutropenia, T- or B-lymphocyte defects, and selective IgA deficiency. It is essential to observe environmental risk factors: reducing environmental tobacco smoke at home is a fundamental goal and the postponed enrolment of children at day-care centres reduces the risk of RRIs. Antibiotic treatment are not justified since they do not shorten the course of the condition or prevent complications. Use of anti-cough syrups should be avoided. Nasal lavage with saline serum and the blowing are the only justified interventions. Adenoidectomy and tonsillectomy should be planned only in conditions included in validated guidelines.
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PMID:Recurrent respiratory infections: why not talking about it any more? 1897 2

Primary ciliary dyskinesia is an autosomal recessive disease with a clinical history of upper and lowers respiratory infections, rhinosinusitis and bronquitis associated with complete or partial situs inversus. The authors present a 78 -year -old male caucasian patient with rhinosinusitis, lower respiratory tract infection and dyspnea, chronic otitis with hearing deficit and infertility followed in Gastroenterology for dyspepsia and constipation. The radiological studies revealed agenesis of right frontal sinus; bronchial wall thickening; bronchiectasis; cecum and ascending colon located on the left and small bowel occupies right side of abdomen. He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia with heterotaxy. For the rarity of this case we decided to present it.
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PMID:[A rare case of primary ciliary dyskinesia with heterotaxy]. 1914 94

Although sporadic human infection due to Burkholderia cepacia has been reported for many years, it has been only during the past few decades that species within the B. cepacia complex have emerged as significant opportunistic human pathogens. Individuals with cystic fibrosis, the most common inherited genetic disease in Caucasian populations, or chronic granulomatous disease, a primary immunodeficiency, are particularly at risk of life-threatening infection. Despite advances in our understanding of the taxonomy, microbiology, and epidemiology of B. cepacia complex, much remains unknown regarding specific human virulence factors. The broad-spectrum antimicrobial resistance demonstrated by most strains limits current therapy of infection. Recent research efforts are aimed at a better appreciation of the pathogenesis of human infection and the development of novel therapeutic and prophylactic strategies.
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PMID:Burkholderia cepacia Complex as Human Pathogens. 1926 97

Primary immunodeficiency disorders pose a diagnostic dilemma for physicians in the developing countries such as Pakistan because of lack of adequate diagnostic facilities. We present here the case of a 17-year-old girl who had a history of recurrent respiratory tract infections since childhood and had been treated with anti-tuberculous medications thrice; for a total of 24 months. She had also received multiple courses of antibiotics. Her initial presentation to our hospital was with acute bronchopneumonia. Her past medical history of recurrent infections also alerted the treating physician to the possibility of bronchiectasis secondary to a variety of underlying potential pathologies such as post-infection, immunodeficiency syndromes or ciliary dyskinesia disorders. Cystic fibrosis was also an important consideration. Direct enquiry revealed that there was no history of consanguineous marriage in her parents. Her sweat chloride test was within normal range (<40 mmol/L). Blood analysis was performed which showed IgA, IgG2 and IgG4 deficiency. She has been following up at our hospital for the past few years. In that course of time, she has had multiple episodes of pneumonia, gastroenteritis and maxillary sinusitis. She was successfully treated with intravenous immunoglobulins on four occasions when she presented with systemic crisis secondary to severe systemic infection. She also developed biopsy proven intermediate grade non-Hodgkin's lymphoma five years after the diagnosis of immunoglobulin deficiency was first made. This appeared to be a complication of her immunodeficient state. She has been receiving chemotherapy for the lymphoma. Physicians should be cognizant of the morbidity that primary immunodeficiency syndromes such as immunoglobulin deficiency can have in the form of multiple infections and increased risk of malignancies as seen in our patient.
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PMID:Primary IgA and IgG subclass deficiency in a 17-year-old Pakistani girl: a case report. 1991 43

Gene therapy for cystic fibrosis (CF) is making encouraging progress into clinical trials. However, further improvements in transduction efficiency are desired. To develop a novel gene transfer vector that is improved and truly effective for CF gene therapy, a simian immunodeficiency virus (SIV) was pseudotyped with envelope proteins from Sendai virus (SeV), which is known to efficiently transduce unconditioned airway epithelial cells from the apical side. This novel vector was evaluated in mice in vivo and in vitro directed toward CF gene therapy. Here, we show that (i) we can produce relevant titers of an SIV vector pseudotyped with SeV envelope proteins for in vivo use, (ii) this vector can transduce the respiratory epithelium of the murine nose in vivo at levels that may be relevant for clinical benefit in CF, (iii) this can be achieved in a single formulation, and without the need for preconditioning, (iv) expression can last for 15 months, (v) readministration is feasible, (vi) the vector can transduce human air-liquid interface (ALI) cultures, and (vii) functional CF transmembrane conductance regulator (CFTR) chloride channels can be generated in vitro. Our data suggest that this lentiviral vector may provide a step change in airway transduction efficiency relevant to a clinical programme of gene therapy for CF.
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PMID:Toward gene therapy for cystic fibrosis using a lentivirus pseudotyped with Sendai virus envelopes. 2033 67

A variety of systemic conditions impact the incidence, severity, prognosis, and treatment approach in patients with chronic rhinosinusitis (CRS). The controversy surrounding the impact of allergic rhinitis on CRS continues, but it is reasonable to consider and treat allergic sources of inflammation in any patient with CRS. CRS is more severe in patients with aspirin sensitivity but improves--at least temporarily--to the same degree as in non-aspirin-sensitive patients, given appropriate therapy. Polypoid rhinosinusitis in cystic fibrosis patients is characterized by compromised mucociliary clearance and infection with staphylococcal and pseudomonal organisms. Affected individuals require frequent antibiotic treatment, saline lavage, and repeated surgeries. Rhinosinusitis is among the most common infectious complications of humoral immunodeficiency, which is not uncommon in patients with refractory CRS. The treatment approach in immunodeficiency includes aggressive antibiotic treatment and intravenous immunoglobulin. Specific diagnosis of comorbid systemic conditions with CRS will facilitate appropriate management.
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PMID:Rhinosinusitis and comorbidities. 2042 95

An increase in the frequency of diagnosing non-cystic fibrosis bronchiectasis in children is due to heightened awareness of the disease and the wider availability of high-resolution computed tomography. The most common underlying conditions leading to bronchiectasis include infections, immunodeficiency, aspiration and primary ciliary dyskinesia. Treatment centres on airway clearance with aggressive antibiotic regimens and physiotherapy; more specific approaches are available for some of the underlying conditions. A high index of suspicion that a child may have underlying bronchiectasis must be maintained in the presence of prolonged or recurrent "wet/productive" cough. The classic definition of bronchiectasis is of irreversible bronchial dilatation; however, at the milder end of the spectrum it appears that radiographic changes may be reversible. Untreated, in its severest form bronchiectasis can progress to end stage pulmonary failure in adult life. In this article, we review its pathogenesis and diagnosis and the evidence base for available treatments.
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PMID:Non-cystic fibrosis bronchiectasis: its diagnosis and management. 2050 30

Bronchiectasis is defined as an abnormal persistent bronchial dilatation usually associated with inflammation in the bronchial tree and lung parenchyma. The disease remains a common cause of significant morbidity and mortality, especially when associated with hereditary disorders such as cystic fibrosis, ciliary dyskinesia, and immunodeficiency states. Computed tomography is now the diagnostic modality of choice and may also contribute to clinical management, suggesting some etiologic causes. We highlight developments in classification, physiopathology and radiology of this debilitating disease.
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PMID:[Understanding the classification, physiopathology and the diagnostic radiology of bronchiectasis]. 2070 May 60

Non-cystic fibrosis (CF) bronchiectasis is said to be a declining problem in developed countries, although its prevalence in indigenous communities in Australia and New Zealand is among the highest reported in the world. Early childhood pneumonia and underlying conditions such as immunodeficiency and primary ciliary dyskinesia need to be considered in the aetiology. A high-resolution computerised tomography scan is the key investigation in children with a chronic wet cough in whom bronchiectasis is suspected. Regardless of the cause, the treatment of bronchiectasis is centred upon facilitating the clearance of airway secretions and the treatment of pulmonary exacerbations. This review aims to provide general paediatricians with an update on the presenting features, investigation and management of non-cystic fibrosis bronchiectasis.
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PMID:Non-cystic fibrosis bronchiectasis. 2104 75

Chronic inflammation of the larger airways is a common occurrence in children. A number of factors such as younger age, premature birth, male gender, exposure to environmental smoke or pollution, and crowded housing can increase a child's susceptibility to chronic lung disease. Chronic bronchitis may be caused by an underlying humoral immunodeficiency if the clinical course is recurrent or prolonged. Primary humoral immunodeficiency accounts for approximately 70% of all immunodeficiencies. The differential of chronic bronchitis also includes Cystic Fibrosis, ciliary defects and immune cellular and phagocytic defects. This review will summarize the most common humoral antibody based immune based deficiencies associated with chronic pulmonary disease.
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PMID:Chronic pediatric pulmonary disease and primary humoral antibody based immune disease. 2114 21


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