Three sera defining a new granulocyte-monocyte-T-lymphocyte antigen.

Three sera containing antibodies recognizing a previously undescribed antigen on granulocytes were found during testing of sera from multiparous donors. All of the antibody producers were in good health. None had a history of transfusion. Using the granulocyte agglutination assay the sera recognize a single antigen which is not associated with the neutrophil antigens NA1, NA2, NB1, NC1, ND1, NE1, 5a, 5b, 9a, nor common red blood cell or HLA antigens. The three sera did not react with autologous cells or with the cells of the other antibody producers. Granulocytes from one antibody producer did not absorb antibody activity from any of the three sera. The antigen was found in large quantities on granulocytes and monocytes, in smaller quantities on T lymphocytes, and not on B lymphocytes, red cells, and platelets. The sera reacted with 340 of 343 random donors (99.1%) and were negative with the same donor cells. Family studies showed autosomal dominant inheritance of the antigen. Five of 12 sibs in three families lacked this antigen (not statistically different from the expected ratio). The calculated gene frequency for the gene controlling the production of this antigen is 0.906. There appeared to be no association to the HLA, NA or Rh loci or to the X or Y chromosomes. None of the infants of these three women showed clinical signs of alloimmune neonatal neutropenia.

Correlation of the HLA-A1,B8 haplotypes with circulating autoantibodies in a family with increased incidence of autoimmune disease.

Two cases of Addison's disease, two cases of scleroderma, three cases of primary hypothyroidism possibly due to Hashimoto's thyroiditis, three cases of diabetes mellitus, and two cases of ovarian failure and secondary amenorrhoea were diagnosed in a single family. In 44 members of four generations of the family including all the diseased, we have performed HLA typing and measurement of circulating autoantibodies. All diseased patients were older than 12 years, all possessed HLA B8 antigen, and all but two showed specific autoantibodies in their serum. In contrast, none of the family members without HLA B8 developed any of the autoimmune diseases in spite of the fact that in 13 of them some circulating autoantibodies were demonstrable in the serum. It is concluded that genetic factors play an essential role in the development of autoimmunity in the studied family. The individuals acquire circulating autoantibodies as they develop the disease. Environmental factors play a secondary role as evident from the age dependence. HLA typing can become an important diagnostic tool in identifying the individuals at a risk of autoimmune disease. Detection of circulating serum autoantibodies alone correlated poorly with the autoimmune disease.

An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any information necessary to normal development, deletion of the euchromatin alone is most probably responsible for the clinical findings.

An investigation of the products of 53 gene loci in three species of wild Canidae: Canis lupus, Canis latrans, and Canis familiaris.

This article describes an investigation of inter- and intraspecific variation in three small populations of wild Canidae-wolf, coyote, and dingo. The products of 53 gene loci were examined. Very little interspecies variation was observed, but the level of intraspecific variation was compatible with that found in man.

Bone volume and mineral density of iliac crest spongiosa in uremia.

Bone mass and bone mineral content were measured in non-dialyzed and dialyzed uremic patients. Bone mass, measured by micromorphometry and a gas displacement method, was higher in uremic than in age and sex matched control subjects (micromorphometry-U:25.8 +/- 8.24%; Co:15.6 +/- 4.38; gas displacement-U:211 +/- 66 mm3/cm3; Co:191 +/- 45). In hemodialyzed patients, bone mass was lower the longer the patients had been on dialysis (r = 0.38; P 0.05). Bone mineral content (specific weight) was diminished in uremia (1.82 +/- 0.095 g/ml; controls 1.854 +/- 0.0173). In hemodialyzed patients, specific weight was higher, as was Ca content of bone assessed by neutron activation analysis. It is concluded, that negative Ca balance was the major cause of bone loss and that bone loss is thus preventable.