We undertook a retrospective analysis of 26 patients with X-linked hypophosphatemic osteomalacia (or rickets), whose ages ranged from 1 to 62 years and who were from 11 different kindreds, to determine the prevalence and clinical characteristics of a unique disorder of the entheses (tendons, ligaments, and joint capsules). We found a generalized involvement of the entheses, with exuberant calcification of tendon and ligament insertions and of joint capsules, in 69 per cent of the subjects. The prevalence and extent of disease increased with age but were not correlated with sex. Commonly affected sites included the hand and sacroiliac joints. Histologic evaluation in a selected patient revealed intratendinous lamellar bone but no inflammatory cells. Our observations indicate that this disorder is an integral part of X-linked hypophosphatemic osteomalacia and exhibits clinical, radiographic, and histologic characteristics that differentiate it from degenerative disorders of these tissues and seronegative spondyloarthropathies.

Fifty-six adult and 15 pediatric black patients with sickle cell disease were studied to determine their antibody responses to repeated transfusions of red cells. Red cell antibodies were determined restrospectively; anti-lymphocyte antibodies (class I and 11) were determined on the single, most recently drawn blood sample. All adults were HLA-A, B, C, DR and DQ typed. Ten percent of the individuals with less than SO transfusions, but greater than 50% with 100 transfusions or more, had red cell antibodies. The percentage of patients producing anti-red cell antibodies increased consistently with the number of transfusions (p = 0.0062). Women were more likely to become sensitized to red cell antigens than men (p = 0.008), and nulliparous women more likely than multiparous women. Children were also sensitized to red cell antigens (20%). and to a high degree to lymphocyte antigens (73%). No HLA association was found with increased propensity to red cell sensitization. A weak association of HLA DRS and DR7 with failure to become sensitized to lymphocyte alloantigens was observed, but did not reach statistical significance. Our results suggest that. while genetic factors influencing transfusion response almost certainly exist, other factors such as number of transfusions, age, sex and panty need to be examined to provide accurate projections of risk in chronic transfusion.

T lymphocytes cultured from a patient (T.D.) with adenosine deaminase (ADA) deficiency expressed ADA activity in the normal range, inconsistent with her severe immunodeficiency, metabolic abnormalities, and with the absence of ADA activity in her B lymphocytes and other nucleated hematopoietic cells.

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We used both radiolabeled and fluorescein-labeled antiglobulins in assays to detect antibodies against platelets in multiply transfused patients to determine the value of these tests in predicting the outcome of platelet transfusion in such patients. In 15 allosensitized patients, we studied 68 single-donor platelet transfusions, 43 (63%) of which had a poor outcome, defined as a corrected count increment (CCI), less than 10,000. The results obtained with either test were significantly correlated with the CCI following transfusion (p less than 0.001), but the assay using the radiolabeled antiglobulin had slightly better sensitivity, specificity, and predictive value. When the assays were used in combination, there was again significant correlation with the CCI of the transfusion, p less than 0.001. When both assays predicted failure of the transfusions, 31/31 (100%) such transfusions resulted in a CCI of less than 10,000, and when both assays predicted success of the transfusions, 14/15 (93%) such transfusions resulted in a CCI of greater than 10,000. Both assays are useful in predicting the outcome of the platelet transfusions; when the assay results were concordant, almost total predictive accuracy was obtained.