Familial IgE deficiency associated with sinopulmonary disease.

Three generations of relatives of 58-year-old nonidentical twins with chronic bronchitis and fibrotic lung disease were evaluated. Sera of 23 family members, 14 with a history of excessive sinopulmonary infections, were examined for deficiencies of immunoglobulin classes, IgG subclasses, and specific antibody to tetanus toxoid and Hemophilus influenzae type b. Of 14 symptomatic family members, 12 had serum IgE concentrations less than 5 IU/ml. Four had values less than 1 IU/ml. Serum IgE was greater than 10 IU/ml in all nine asymptomatic individuals. Inheritance of low IgE appeared to be autosomal dominant, with variable penetrance. IgA was low normal (70-90 mg/dl) in three individuals. Two of these were IgE deficient. One symptomatic child had unmeasurable IgG2 (less than 10 mg/dl) and IgE (less than 0.5 IU/ml). This kindred demonstrates that IgE deficiency can be familial, and associated with sinopulmonary disease.

Clinical correlations of serum angiotensin-converting enzyme (ACE) in sarcoidosis. A longitudinal study of serum ACE, 67gallium scans, chest roentgenograms, and pulmonary function.

Thirty-one patients with biopsy-confirmed sarcoidosis were studied for two to four years to compare serum angiotensin-converting enzyme (ACE) levels to clinical status, 67gallium scans, chest x-ray films, and pulmonary function tests (PFTs). Serum ACE levels and changes in ACE level correlated best with the clinical status of patients and their gallium scans (p less than 0.0005), and less with their chest x-ray films (p = 0.012) or PFTs (p = 0.007). The gallium scan was especially useful for localizing areas of disease involvement. Serial measurements of serum ACE were found to be a sensitive means for following the clinical course of patients with sarcoidosis and at times for predicting clinical relapse or improvement.

Angiotensin-I-converting enzyme and gallium scan in noninvasive evaluation of sarcoidosis.

Angiotensin-converting enzyme assays and gallium-scan results were obtained from 27 patients with biopsy-proven, clinically active sarcoidosis. Twenty-three of these patients had elevated converting enzyme levels, and 22 had positive gallium-scan results. Three of four patients with normal or borderline-elevated levels of angiotensin-converting enzyme also had positive gallium-scan results. Of 156 nonsarcoid patients (pulmonary and other diseases), 27 were found to have elevated serum converting enzyme levels, and 25 of these had negative gallium-scan results. These results indicate that the combination of an assay of angiotensin-converting enzyme and gallium scan increases diagnostic specificity from 83% to 99% without sacrificing sensitivity. We conclude that the concurrent use of angiotensin-converting enzyme assay and gallium scan is of value in the diagnosis of sarcoidosis.

Intermediate alpha1-antitrypsin deficiency resulting from a null gene (M-phenotype).

The presence of a null gene for alpha1-antitrypsin was detected in a family study by the inheritance of intermediate antitrypsin deficiency in association with a normal (PiM) phenotypic pattern. The proband, a 42-year-old man (M-phenotype), was a cigarette smoker and had physiologic evidence of pulmonary emphysema. Three female members of the family were receiving estrogenic medication but had deficient values for serum trypsin inhibitory capacity nevertheless, indicating an unresponsive gene. The mean serum trypsin inhibitory capacity for those with an M-phenotype was significantly lower than that found with an MZ phenotype, presumably due to the total noncontribution to serum antitrypsin activity by the null gene. A quantitative measurement of antitrypsin activity or concentration is necessary in an antitrypsin screening program, since phenotyping procedures alone cannot reveal the null gene.

Application of systolic time intervals to acute cardiomyopathy with echovirous 2.

The occurrence of echovirus type 2 myocarditis in an adult is reported. Myocarditis was substantiated by abnormal electrocardiograms. More important, a prolonged course and severe functional impairment was quantitatively assessed by serial systolic time intervals, even after the ECGs became normal. The patient also had meningitis, hemiparesis, and convulsions. Viral isolation was from the spinal fluid.

Lupus erythematosus in a patient with amyloidosis, adrenal insufficiency, and subsequent immunoblastic sarcoma: demonstration of the LE phenomenon in the lung.

A patient with systemic lupus erythematosus of long duration developed secondary amyloidosis and finally died after the additional complication of malignant lymphoproliferative disease. Multiple system involvement, typical serologic findings, and postmortem evidence substantiated the diagnosis of lupus erythematosus. Amyloid deposition was found in several organs, but was notably extensive in the adrenal cortex. This extensive deposition resulted in adrenal insufficiency, which was diagnosed clinically and treated until the patient's death from lymphoma. The particular nature of the malignant lymphoma is emphasized; a distinctive feature was the disappearance of positive lupus erythematosus cells from the buffy coat and the reduction in titers of relevant serologic tests toward the end of the illness. In spite of this reduction, many hematoxylin bodies and abundant complete lupus erythematosus cells were found in the lungs on postmortem examination.

Alpha1-antitrypsin deficiency and hepatic carcinoma.

A patient with homozygous ZZ alpha1-antitrypsin deficiency and severe pulmonary emphysema was discovered to have a mixed hepatocellular and cholangiolar hepatic carcinoma arising in a noncirrhotic liver. Because of the increasing frequency of hepatomas in patients with alpha1-antitrypsin deficiency, it is suggested that a causal relationship may exist.