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

Approximately 10% of patients with common variable immune deficiency have systemic granulomatous disease with associated interstitial lung disease. From a population of patients with CVID attending a large tertiary referral clinic for primary immunodeficiency diseases we selected a cohort who had a restrictive defect or impaired gas transfer on pulmonary function testing and/or histologically proven granulomatous disease. HRCT scans of the thorax were reviewed retrospectively in 18 patients by two radiologists. Thirteen patients had diffuse reticulation, which varied from fine to coarse with features of fibrosis. Nodules were found in eight patients. In seven, these were associated with reticulation and in one they were an isolated finding. Bronchiectasis was found as the only abnormality in three and in addition to diffuse reticulation or nodules in another three patients. Greater appreciation of the spectrum of the radiological abnormalities in CVID patients with interstitial lung disease is important. Deteriorating lung function in patients with granulomatous CVID may be secondary to interstitial lung disease rather than bronchiectasis, and treatment should be tailored accordingly.
 ...
PMID:The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency. 1589 36

Chronic lung disease (CLD) in children represents a heterogeneous group of many distinct clinicopathological entities. The prevalence of CLD has increased in the past decade because of the more advanced and intensive respiratory support provided for compromised children and additionally the overall improved survival of preterm babies. The disorders which constitute CLD generally have a slow tempo of progression over many months or even years. The most common causes of CLD in children are cystic fibrosis (CF), and other causes of bronchiectasis (such as immunodeficiency, and in the third world, post-infective bronchiectasis, for example, measles), bronchopulmonary dysplasia (BPD) (or lung disease of prematurity), asthma, chronic gastro-oesophageal reflux/aspiration pneumonitis, and constrictive obliterative bronchiolitis.
 ...
PMID:The radiology of chronic lung disease in children. 1590 25

The aim of the current study was to review the aetiology of non-cystic fibrosis (CF) bronchiectasis from two tertiary paediatric respiratory units in order to determine how often making a specific aetiological diagnosis leads to a change in management, and to assess the contribution of computed tomography (CT) in determining the underlying diagnosis. The case records of all patients who were diagnosed as having bronchiectasis by CT, currently being seen at the Royal Brompton Hospital and Great Ormond Street Hospital for Children (London, UK), were reviewed. All patients had undergone extensive investigations, and the underlying aetiology and the area of pulmonary involvement (as seen on CT) were recorded. A total of 136 patients were identified; there were 65 young males and the group median (range) age was 12.1 yrs (3.1-18.1). Immunodeficiency, aspiration and primary ciliary dyskinesia accounted for 67% of the cases. In 77 (56%) children, the identification of a cause led to a specific change in management. There was no association between aetiology and the distribution of CT abnormalities. In conclusion, immunodeficiency and other intrinsic abnormalities account for the majority of cases of non-cystic fibrosis bronchiectasis seen in the current authors' units. Computed tomography scans do not contribute towards identifying the aetiology and, most importantly, a specific aetiological diagnosis frequently leads to a change in management.
 ...
PMID:Non-CF bronchiectasis: does knowing the aetiology lead to changes in management? 1620 14

Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder. The inability of phagocytic cells to kill catalase-positive organisms, such as Staphylococcus and Aspergillus species, causes recurrent infections, persistent inflammation, and granuloma formation. The imaging findings in nine cases of CGD were studied. Recurrent pulmonary infection was the most common abnormality (seven cases). Its complications included pulmonary abscesses, bronchiectasis, mediastinal abscesses, osteomyelitis, sepsis, and brain abscesses. Suppurative cervical adenitis was the second most common abnormality (four cases) and was also the presenting abnormality in the youngest patient (aged 31 days). Abdominal manifestations included hepatosplenomegaly, recurrent hepatic and splenic abscesses, necrotic mesenteric adenopathy, and gastric outlet obstruction. Osteomyelitis occurred in two cases secondary to hematogenous spread or spread of contiguous infection from the lung. Persistent infections led to formation of chronic inflammatory masses and granulomas in five cases. With improvements in therapy, the prognosis of CGD patients has improved and the general consensus is that most patients will survive into adulthood. Hence, radiologists are more likely to encounter the complications of CGD and should familiarize themselves with the spectrum of imaging findings.
 ...
PMID:Imaging of chronic granulomatous disease in children. 1616 Jan 5

Bronchiectasis is becoming less common as the treatment for acute lower respiratory tract infections improves and immunization programmes decrease the frequency of pertussis and measles. However bronchiectasis is still a challenge to the paediatric chest physicians in many developing parts of the world and it remains a frequent problem being the final common pathway of several different lower respiratory tract insults such as cystic fibrosis, immunodeficiency, ciliary dyskinesia. Although the treatment of patients with bronchiectasis is primarily medical, surgical treatment is required in a small group of patients with recurrent episodes of pneumonia and atelectasis localized to one area, severe or recurrent hemoptysis and in those unresponsive to aggressive medical treatment with abnormal growth and development. There are unanswered questions about childhood bronchiectasis, mainly on aetiology and treatment which require more research.
 ...
PMID:Non cystic fibrosis bronchiectasis. 1626 48

The importance of the innate immune system, including mannose-binding lectin and the complement system, in common variable immunodeficiency is unclear. The objective of this study was to evaluate mannose-binding lectin and the complement system in relation to clinical and immunological parameters in patients with common variable immunodeficiency. Circulating levels of mannose-binding lectin, complement components, complement activation products and functional capacity of complement pathways were correlated to clinical features within 71 patients and compared with 30 healthy controls. The main findings were; the patients had signs of increased complement activation significantly associated with signs of autoimmunity and immunological hyperactivity; there were no signs of deficiencies of the classical and alternative complement pathways in the patient group; the prevalence of lectin pathway deficiency was the same in patients and controls, but patients with increased frequency of lower respiratory tract infections or bronchiectasis had lower capacity of the lectin pathway than patients without these features (P = 0.002 and 0.004, respectively); the serum concentration of mannose-binding lectin was inversely correlated to the frequency of lower respiratory tract infections (P = 0.002) and bronchiectasis (P = 0.01). We conclude that patients with common variable immunodeficiency have no increased frequency of complement deficiencies but signs of increased complement activation. Our findings suggest that mannose-binding lectin and the lectin complement pathway may protect against lower respiratory tract infection and bronhiectasis in patients with common variable immunodeficiency.
 ...
PMID:Common variable immunodeficiency and the complement system; low mannose-binding lectin levels are associated with bronchiectasis. 1629 71

Suppurative cough can be defined as a cough where purulent sputum is produced. Chronic suppurative cough may be associated with the destruction of the bronchial wall (bronchiectasis). As mild forms of the disease are not associated with respiratory limitation or failure to thrive, such children may not present for investigation and therefore the true incidence of suppurative cough is difficult to gauge. Chronic suppurative cough remains an important health problem in developing countries and some indigenous populations of developed countries. The purpose of this review is to present the appropriate investigations and evaluate the evidence for current management strategies in children with suppurative cough. To accomplish this, a brief discussion on the aetiology of suppurative cough in childhood is presented. The most commonly identifiable cause of suppurative cough is cystic fibrosis. A detailed discussion on cystic fibrosis is beyond the scope of this review. Other causes of chronic suppurative cough in pre-school children may be classified according to congenital malformations of the airway, immunodeficiency, ciliary dysfunction and, unusually, acquired causes. Microbiology of sputum culture or bronchoalveolar lavage, assessment of immune function, the role of exhaled nitric oxide and ciliary studies, and medical imaging are discussed in detail. One can conclude that the evidence for management strategies for children with suppurative cough is, at best, level 3 evidence, i.e. non-randomised, controlled or cohort studies.
 ...
PMID:Investigation and management of suppurative cough in pre-school children. 1647 11

Patients infected by tuberculosis (TB) had been thought to never experience exogenous re-infection. However, exogenous re-infection in HIV-positive patients is well known. Thanks to the introduction of histopathological examination, analysis of similarities in drug-resistance patterns and epidemiological surveys of genetic phage typing for TB infection, we have begun to understand that even people with a normal immune system can experience re-infection. Recent advances in the techniques of restriction fragment length polymorphism (RFLP) and spoligotyping allow determination of similarities in tubercle bacilli, revealing a high ratio of exogenous re-infection. In this mini-symposium, Dr. Kazunari Tsuyuguchi reported cases of nosocomial multidrug-resistant tuberculosis (MDRTB) infection, as exogenous re-infection, at 3 tuberculosis hospitals in the Osaka area. Although the virulence of MDRTB as a variant strain has generally been regarded as weaker than that of drug-sensitive strains, he reported even non-Beijing strain MDRTB, which displays strong virulence, could possess possible infectiosity with a 42% ratio of clustering formation and 2 of 8 patients with MDRTB exhibiting exogenous re-infection, as analyzed by RFLP. Dr. Hideo Ogata reported the actual condition of exogenous re-infection, having cited a large number of reports at home and abroad. In his report he indicated that even among hosts without serious hypoimmunity, re-infection rate is high in high-prevalence countries. Conversely, endogenous TB reactivation is high in low-prevalence countries. As Japan has become a low-prevalence country, endogenous reactivation might be seen in TB wards. Dr. Katsuhiro Kuwabara reported on his study about exogenous re-infection of Mycobacterium avium, which represented resident flora in the environment, using IS1245 RFLP analysis. He demonstrated that re-infection and multiple infections were frequently observed in M. avium infection. Dr. Tomoshige Matsumoto finally added that about 90% of patients with recurrence in the Osaka area exhibit endogenous reactivation, as found using molecular epidemiologic analysis of bacterial strains from initially treated and retreated patients. Compared with reports from other countries, the ratio of exogenous re-infection in Japan is lower than elsewhere. Thanks to the public health service about TB, sources of TB infection are not present, so patients with TB do not experience exogenous re-infection, he concluded. He also discussed the variable number of tandem repeats (VNTR)-typing method that has been taking the place of the IS6110 RFLP. In this mini-symposium referring to molecular epidemiological analyses and reports from Japan and overseas, we showed that depending on factors involving hosts, parasites and the density of TB re-exposure, the possibility of universal exogenous nosocomial re-infection exists. Each presenter alerted us to the fact that as exogenous re-infection occurs mainly in TB inpatient wards, prevention of TB infection is crucial for inpatients and medical staff in Japan as a low-prevalence country. (1) Exogenous re-infection by multidrug-resistant tuberculosis: Kazunari TSUYUGUCHI, Shiomi YOSHIDA, Katsuhiro SUZUKI, Masaji OKADA, Mitsunori SAKATANI (NHO Kinki-chuo Chest Medical Center) We describe three recurrent cases of multidrug-resistant (MDR) tuberculosis (TB) nosocomially re-infected with MDRTB strain during treatment for drug-sensitive TB. The first and the second patients, both of whom were middle-aged heavy smoker men, were associated with the outbreak caused by non-Beijing MDRTB strain. The third patient was a immunocompetent young man and the isolated strain was Beijing MDRTB strain. All the patients were HIV-seronegative. We conclude that exogenous re-infection by MDRTB can occur on various situations. These results underscore the importance of placing MDRTB patients separately from drug-sensitive TB patients. (2) Reviews of the exogenous re-infection in tuberculosis: Hideo OGATA (Fukujuji Hospital, JATA) In Japan, they have thought that a tubercular relapse is based on endogenous reactivation in almost all cases. However, there are many studies which prove exogenous re-infection using tuberculin test or drug susceptibility test. The technique of developed strain typing contributed exogenous re-infection to clarifying greatly in a real proof and its frequency in recent years. (3) Multiple and repeated polyclonal infections in patients with Mycobacterium avium lung diseases: Katsuhiro KUWABARA (NHO Nishi-Niigata Chuo National Hospital) The routes of transmission and environmental reservoirs of Mycobacterium avium infections have been unclear. IS1245 based RFLP analysis showed genetic diversity of Mycobacterium avium clinical isolates and the relation between clinical subtype and polyclonal infection. Our study demonstrates that polyclonal infections are common in Mycobacterium avium lung diseases, especially nodular bronchiectasis type. In addition, not only simultaneous polyclonal infections but also repeated polyclonal infections were observed in some patients. The knowledge of polyclonal infection will lead to better understanding of Mycobacteriuim avium pathogenesis and epidemiology. SPECIAL COMMENTARIES: Consideration of exogenous re-infection of tuberculosis in Osaka. Japan, by using molecular epidemiologic tools: Tomoshige MATSUMOTO (Osaka Prefectural Medical Center for Respiratory and Allergic Diseases) By using IS6110 RFLP, we showed that 9.5% of TB recurrence was caused by re-infection in the middle-eastern area of Osaka Prefecture, Japan. The molecular typing tools are now being applicable not only to epidemiological but also to clinical fields by an introduction of PCR-based method, such as Variable Numbers of Tandem Repeats (VNTR) typing. We showed some examples about usefulness of the clinical application of molecular epidemiology, using VNTR.
 ...
PMID:[Exogenous re-infection in tuberculosis]. 1652 9

Although idiopathic humoral immunodeficiencies are arbitrarily classified into specific antibody deficiency (SAD) or common variable immunodeficiency (CVID), this distinction does not accurately predict the risk of the bronchiectasis, one of the major long-term clinical complications in these patients. In this study, clinical complications were compared with laboratory markers of cellular and humoral immunity in fifty-five consecutive patients (27 children and 28 adults) attending regional immunology clinics in Manchester, United Kingdom. Reduced CD19(+)CD27(+)IgD(-) B cell percentage but not serum immunoglobulin levels or classification of patients into SAD and CVID was associated with a significantly higher prevalence of bronchiectasis (OR 0.4 (0.2-0.8), P = 0.001), splenomegaly (OR 0.2 (0.1-0.5), P = 0.001) and autoimmunity (OR 0.4 (0.2-0.7), P = 0.003). We conclude that in patients with idiopathic humoral immunodeficiencies assessment of B cell switching more accurately predicts clinical prognosis than either classification of patients into SAD and CVID or serum immunoglobulin concentrations.
 ...
PMID:Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. 1678 7

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.
 ...
PMID:X-linked agammaglobulinemia in northern Thailand. 1691 89


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>