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)

A 12-year-old girl had sarcoidlike syndrome and hypogammaglobulinemia. Pancytopenia and hepatosplenomegaly were noted at age 4 years. Histopathologic study showed typical sarcoidlike granulomas. Chronic lung disease, along with recurrent infections, developed. Immunologic studies revealed common variable hypogammaglobulinemia, abnormal cellular immune functions, and decreased C4 levels. An immunoregulatory defect is suggested as the pathogenesis of this immunodeficiency syndrome, with multisystem sarcoidlike granulomas, hypersplenism, pulmonary disease, and abnormal cellular and humoral immunity.
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PMID:Hypogammaglobulinemia with sarcoidlike granulomas. 686 39

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.
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PMID:The radiology of chronic lung disease in children. 1590 25

Primary antibody deficiencies (PADs) are the most common form of primary immunodeficiency and predispose to severe and recurrent pulmonary infections, which can result in chronic lung disease including bronchiectasis. Chronic lung disease is among the most common complications of PAD and a significant source of morbidity and mortality for these patients. However, the development of lung disease in PAD may not be solely the result of recurrent bacterial infection or a consequence of bronchiectasis. Recent characterization of monogenic immune dysregulation disorders and more extensive study of common variable immunodeficiency have demonstrated that interstitial lung disease (ILD) in PAD can result from generalized immune dysregulation and frequently occurs in the absence of pneumonia history or bronchiectasis. This distinction between bronchiectasis and ILD has important consequences in the evaluation and management of lung disease in PAD. For example, treatment of ILD in PAD typically uses immunomodulatory approaches in addition to immunoglobulin replacement and antibiotic prophylaxis, which are the stalwarts of bronchiectasis management in these patients. Although all antibody-deficient patients are at risk of developing bronchiectasis, ILD occurs in some forms of PAD much more commonly than in others, suggesting that distinct but poorly understood immunological factors underlie the development of this complication. Importantly, ILD can have earlier onset and may worsen survival more than bronchiectasis. Further efforts to understand the pathogenesis of lung disease in PAD will provide vital information for the most effective methods of diagnosis, surveillance, and treatment of these patients.
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PMID:Lung Disease in Primary Antibody Deficiencies. 2783 55

Respiratory complications comprise a large proportion of the burden of mortality and morbidity in children with human immunodeficiency virus (HIV). HIV-associated lower respiratory tract infection (LRTI) has declined in incidence with early diagnosis and use of antiretroviral therapy (ART) but is widespread in areas with limited access to ART. HIV-exposed uninfected infants have a higher risk of LRTI early in life than unexposed infants. Pulmonary tuberculosis (PTB) presenting as acute or chronic disease is common in highly TB endemic areas. Chronic lung disease is common; preceding LRTI, PTB or late initiation of ART are risk factors.
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PMID:Respiratory Complications in Children and Adolescents with Human Immunodeficiency Virus. 3322 28