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)

Hyperimmunoglobulinemia E (Job syndrome) is a primary immunodeficiency that features abscesses of the skin, lung, and viscera; pneumonia; and elevated levels of serum immunoglobulin E. Pulmonary infections lead to lung abscesses, pneumatoceles, and bronchiectasis. We report the ventilatory management of a patient with Job syndrome.
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PMID:Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. 1841 Aug 69

Bronchiectasis is a chronic debilitating condition characterized by abnormal dilated thick-walled bronchi. To investigate humoral immune function in bronchiectatic patients, this study was performed. Forty patients with established diagnosis of bronchiectasis, who were referred from two tertiary care pulmonology centers in Tehran, were investigated in this study. Immunoglobulin isotypes concentrations and IgG-subclasses were measured by nephelometry and enzyme-linked immunosorbent assay (ELISA) methods, respectively. All patients received unconjugated pneumococcal vaccine, and blood samples were taken before and 21 days after vaccination. Specific antibodies against whole pneumococcal antigens were measured using the ELISA method. Fifteen (37.5%) out of 40 patients were diagnosed to have defects in antibody mediated immunity including 5 (12.5%) patients with immunoglobulin class deficiency (2 with common variable immunodeficiency and 3 with IgA deficiency), 3 (7.5%) with IgG subclass deficiency and 7 (17.5%) patients had Specific antibody deficiency (SAD) against polysaccharide antigen despite normal levels of serum immunoglobulins and IgG subclasses. Our study along with several other studies confirmed that all patients with bronchiectasis should undergo thorough immunological evaluation in order to identify the presence of the underlying immunologic defect. This evaluation should include serum immunoglobulins, IgG subclasses concentrations and also determination of serum antibodies against pneumococcal antigens. Early diagnosis and appropriate treatment will prevent the subsequent complications and improve quality of life of affected individuals.
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PMID:Evaluation of humoral immune function in patients with bronchiectasis. 1855 8

Mannose-binding lectin (MBL), activating protein of the lectin pathway of the complement system, is an important component of the non-specific immune response. MBL2 gene polymorphisms, both in the coding and promoter regions, lead to low or deficient serum MBL levels. Low serum MBL levels were shown to be associated with serious infectious complications, mainly in patients in whom other non-specific immune system barriers were disturbed (granulocytopenia, cystic fibrosis). We have analysed two promoter (-550 and -221) and three exon (codons 52, 54 and 57) MBL2 polymorphisms in a total of 94 patients with common variable immunodeficiency (CVID) from two immunodeficiency centres. Low-producing genotypes were associated with the presence of bronchiectasis (P = 0.009), lung fibrosis (P = 0.037) and also with respiratory insufficiency (P = 0.029). We could not demonstrate any association of MBL deficiency with age at onset of clinical symptoms, age at diagnosis, the number of pneumonias before diagnosis or serum immunoglobulin (Ig)G, IgA and IgM levels before initiation of Ig treatment. No association with emphysema development was observed, such as with lung function test abnormalities. No effect of MBL2 genotypes on the presence of diarrhoea, granuloma formation, lymphadenopathy, splenomegaly, frequency of respiratory tract infection or the number of antibiotic courses of the patients was observed. Our study suggests that low MBL-producing genotypes predispose to bronchiectasis formation, and also fibrosis and respiratory insufficiency development, but have no effect on other complications in CVID patients.
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PMID:Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. 1863 4

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It can present at any age in patients with a history of recurrent bacterial infections, with or without a family history of other primary immunodeficiencies (PID), and shows a wide range of clinical manifestations and immunological data. Diagnosis is based on low IgG, IgM and/or IgA levels. Delayed diagnosis and therapy can lead to bronchiectasis and malabsorption. The aim of this study was to describe a paediatric population diagnosed of CVID and its evolution in the population. Memory B-cell (MB) classification carried out in these patients was correlated with clinical manifestations and outcome. Clinical and immunological data of 22 CVID children under 18 yr treated at our centre between 1985 and 2005 are presented. Immunological studies included those for diagnosis and MB quantification. Differences in form of presentation, familial incidence and MB classification were reviewed. A statistical descriptive analysis was made. Infections were the commonest manifestation, affecting mainly respiratory (19/22) and gastrointestinal (10/22) tracts. Bronchiectasis was present in seven cases, and detected prior to CVID diagnosis in five. Replacement therapy led to a significant reduction in the number of infections. Severe complications appeared mostly in patients without MB. Patients of the same family share the same MB group. Family members had also been diagnosed of CVID in seven cases. Early diagnosis and therapy are essential to improve outcome in these patients. MB studies are useful in children to orient prognosis and further genetic studies.
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PMID:Common variable immunodeficiency: 20-yr experience at a single centre. 1953 58

Pneumatosis intestinalis has been described in association with many gastrointestinal tract disorders including infection, ischemia and obstruction. It has also been described in patients with chronic obstructive pulmonary disease, connective tissue disorders, organ transplantation, leukemia and various states of immunodeficiency. In the present paper, the case of a 66-year-old woman with chronic bronchiectasis who subsequently developed pneumatosis intestinalis is described.
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PMID:Pneumatosis intestinalis in a patient with chronic bronchiectasis. 1892 10

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

Patients with common variable immunodeficiency (CVID) have impaired production of immunoglobulins and hence recurrent airway infections, which in turn may lead to radiological changes and impaired lung function. Uncertainty exists about the nature and frequency of the radiological and the physiological abnormalities, and how they relate to each other. We reassessed high resolution computed tomography (HRCT) images in 65 patients, reported results from previously measured lung function tests, and studied relations between radiology, function and clinical variables. Airway obstruction, ventilatory restriction and impaired gas diffusion was found in 40, 34 and 21% of the patients, respectively. HRCT abnormalities were present in 94% of the subjects, mild changes being the most common. Bronchial wall thickening, found in two thirds of the patients, was related to airway obstruction and impaired gas diffusion. Linear and/or irregular opacities, the most frequent interstitial abnormality, was related to impaired gas diffusion. Bronchiectasis was found in more than half, but only severe bronchiectasis was related to airway obstruction. Since bronchial wall thickening and linear and/or irregular opacities are both frequent and important determinants of impaired pulmonary function, more attention should be given to these features in the follow up of CVID patients.
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PMID:High resolution computed tomography and pulmonary function in common variable immunodeficiency. 1918 8

Hyper IgE syndrome (HIES) is a rare primary immunodeficiency characterized by the triad of elevated IgE and eosinophilia, eczema, and recurrent skin and pulmonary infections. The autosomal dominant (AD) form of HIES results from mutations in STAT3 and is characterized by disordered inflammation, connective tissue, and skeletal abnormalities. Tissue-specific STAT3 deficiency in animals, cytokine and transcriptional array data, and careful clinical phenotyping have explained some of the pathophysiology of the immunologic and non-immunologic abnormalities of AD-HIES. In depth study of the role of STAT3 mutations in specific aspects of HIES may lead to better understanding and new approaches to treatment of conditions intrinsic to HIES that are common in the general population, such as staphylococcal infections, scoliosis, osteoporosis, bronchiectasis, and arterial aneurysms. As the genotypes of STAT3 deficiency are further characterized, genotype-phenotype correlations may emerge that will be informative regarding specific molecular interactions. Autosomal recessive forms of hyper IgE (AR-HIES) have also been reported. A single case of homozygous deficiency of the signal protein Tyk2 has been reported as well as a recessive syndrome with some features overlapping AD-HIES, but for which the genetic etiology is unknown. Better understanding of the pathophysiology and mechanisms of dominant and recessive hyper IgE syndromes will shed light on somatic and immune biology and may improve quality of life and survival for HIES patients.
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PMID:Pathogenesis of hyper IgE syndrome. 1945 85

The association of common variable immunodeficiency (CVID) and systemic lupus erythematosus (SLE) is infrequent. Mannose-binding lectin (MBL) has been shown to play a role in CVID and SLE. The purpose of this study is to describe two cases of CVID who presented as SLE and also evaluate the presence of MBL polymorphisms and MBL serum levels in those patients. In both patients, SLE was the first manifestation of CVID. In these patients the SLE immunological markers and disease activity disappeared after the development of CVID. They carried the very infrequent MBL haplotype 4Q-57Glu. One of them had a homozygous genotype, whereas the other patient was heterozygous and also presented the haplotype 4P-57Glu that had never been previously detected. Interestingly, this last patient was presenting frequent respiratory tract infections, developed bronchiectasis and had low levels of circulating MBL. These results may support the role of MBL in the development of autoimmunity in CVID. Further genetic studies are needed to clarify the role of the MBL polymorphisms in the development of autoimmunity in CVID.
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PMID:Systemic lupus erythematosus as a first presentation of common variable immunodeficiency associated with infrequent mannose-binding lectin gene polymorphisms. 1985 69

Touw CML, van de Ven AA, de Jong PA, Terheggen-Lagro S, Beek E, Sanders EAM, van Montfrans JM. Detection of pulmonary complications in common variable immunodeficiency. Pediatr Allergy Immunol 2010: 21: 793-805. (c) 2009 John Wiley & Sons A/S Pulmonary complications are frequently observed in common variable immunodeficiency (CVID). We reviewed the literature related to radiologic imaging techniques and pulmonary function tests (PFT) for diagnosing pulmonary complications in CVID. Scientific publications related to CVID (or primary hypogammaglobulinemia), pulmonary complications, PFT, chest X-ray (CXR), and high-resolution computed tomography scan (HRCT) were detected in PubMed, Embase and in reference lists of selected articles. Twenty-six articles including 1047 patients (587 patients with CVID) were reviewed. Up to 73% of CVID patients develop chronic structural pulmonary complications, of which bronchiectasis and bronchial wall thickening are most frequently detected. HRCT is the most sensitive method for identification of structural abnormalities, detecting pulmonary complications that were missed on CXR and PFT in 2-59% of patients. On PFT, obstructive flow-volume curves were most commonly found, eventually occurring in 50-94% of patients. HRCT is an important diagnostic tool for pulmonary complications in CVID at the time of diagnosis and at regular time-points during follow-up, with the proper follow-up interval yet to be determined.
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PMID:Detection of pulmonary complications in common variable immunodeficiency. 2153 82


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