Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a patient in whom selective IgA deficiency and homozygous alpha1-antitrypsin deficiency were discovered. Clinically, the patient suffered from chronic sinopulmonary infections, destructive emphysema, and bronchiectasis. The interrelation of IgA and alpha1-antitrypsin was studied. Twenty-three alpha1-antitrypsin-deficient sera were screened for IgA deficiency. None of these sera were deficient in IgA. Fifteen IgA-deficient sera were screened for alpha1-antitrypsin deficiency. In this group, three patients were found to have variant alpha1-antitrypsin phenotypes. Respiratory infections were a prominent complaint in all three of these patients, with bronchiectasis in two patients. We believe that the combination of IgA and alpha1-antitrypsin deficiencies should be considered in the evaluation of any patient with idiopathic bronchiectasis.
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PMID:Selective IgA deficiency and Pi ZZ-antitrypsin deficiency. Association with recurrent sinopulmonary infections, emphysema, and bronchiectasis. 30 13

Fifty-three patients with bronchiectasis (chronic bronchial suppuration) of unknown cause, in whom the chronic production of purulent sputum was the prominent clinical feature, were investigated for possible immunological abnormalities. They were compared with two control groups comprising 50 patients with chronic bronchitis and emphysema and 33 patients with bronchial asthma. Forty-two patients with bronchiectasis(79%) had at least one abnormality of immunoglobulin, usually elevation of IgA, IgG or IgM. Eight patients had all three immunoglobulin levels raised and this was related to severity of disease. Similar increases in immunoglobulin levels were observed in the control groups, but the frequency and severity of these changes were significantly greater in the bronchiectasis patients. Two patients had IgA deficiency. There was a very high prevalence of rheumatoid factor (52%) and an increased prevalence of antinuclear factor (10%) in the bronchiectasis patients compared with the control groups. The presence of these autoantibodies did not correlate closely with severity of disease. Ten patients with bronchiectasis (19%) had one or more autoimmune disorders, and the association of severe bronchiectasis, Hashimoto's thyroiditis and pernicious anaemia in one patient is described in detail. The immunoglobulin changes, high incidence of autoantibodies and association with autoimmune disorders raises the possibility that in some patients with bronchiectasis (chronic bronchial suppuration) of apparent unknown cause abnormal immune mechanisms may be important in causing or perpetuating the condition.
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PMID:Immunological abnormalities in bronchiectasis with chronic bronchial suppuration. 30 9