Clin. exp. Immunol. (1975) 21, 39-46.
IMMUNODEFICIENCY DISEASES I. T-LYMPHOCYTE PRECURSORS AND T-LYMPHOCYTE DIFFERENTIATION IN PARTIAL DI GEORGE SYNDROME
J. L. TOURAINE,* F. TOURAINE, J. DUTRUGE, J. GILLY, S. COLON AND R. GILLY Departments of Immunobiology, Nephrology and Neonatal Paediatrics, Claude Bernard University, Lyon, France (Received 11 November 1974) SUMMARY
Immunological and pathological studies in a case of partial Di George syndrome revealed an absence of parathyroids, a major hypoplasia of thymus but a relatively moderate decrease in peripheral T-lymphocyte numbers and functions. After in vitro incubation with normal thymus extracts, a normal proportion of bone marrow cells was induced to differentiate into cells with characteristics of T lymphocytes, thus establishing the presence of T-cell precursors in the patient's bone marrow. INTRODUCTION In addition to the rare cases of complete Di George syndrome (Di George, 1968), there seems to be other forms of the disease in which thymic aplasia is only partial and some thymic tissue can be detected microscopically (Lischner & Di George, 1969; Lischner, 1974). In such a case of partial thymic aplasia we have investigated the numbers and in vitro functions of the peripheral T lymphocytes found, as well as the in vitro capability of human bone marrow cells to differentiate into T lymphocytes (i.e. cells expressing surface antigenic markers recognized by a specific anti-T-cell serum) under the influence of normal thymic extracts (Touraine et al., 1974b).
MATERIALS AND METHODS Case report A 1-month-old female patient was referred to us for dysphagia, cardiopathy and tetany. Her 19-year-old mother was a first cousin to her father and had been in contact with rubella during the 2nd month of pregnancy (she then received a y-globulin injection; anti-rubella antibodies were sought after delivery: no specific IgM were detected but the titre of anti* Present address and correspondence: Dr J. L. Touraine, Transplantation and Immunobiology Unit, Clinic of Nephrology (Pr J. Traeger), Pav. P, H6pital Edouard Herriot, 69003, Lyon, France.
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rubella IgG increased). This infant had retrognatism, hypertelorism, abnormalities of her ears and her tongue, tetralogy of Fallot and double aortic arch with oesophageal compression. Hypocalcaemic tetany was related to hypoparathyroidism; the level of immunoreactive parathormone in serum was
IMMUNODEFICIENCY DISEASES I. T-LYMPHOCYTE PRECURSORS AND T-LYMPHOCYTE DIFFERENTIATION IN PARTIAL DI GEORGE SYNDROME
J. L. TOURAINE,* F. TOURAINE, J. DUTRUGE, J. GILLY, S. COLON AND R. GILLY Departments of Immunobiology, Nephrology and Neonatal Paediatrics, Claude Bernard University, Lyon, France (Received 11 November 1974) SUMMARY
Immunological and pathological studies in a case of partial Di George syndrome revealed an absence of parathyroids, a major hypoplasia of thymus but a relatively moderate decrease in peripheral T-lymphocyte numbers and functions. After in vitro incubation with normal thymus extracts, a normal proportion of bone marrow cells was induced to differentiate into cells with characteristics of T lymphocytes, thus establishing the presence of T-cell precursors in the patient's bone marrow. INTRODUCTION In addition to the rare cases of complete Di George syndrome (Di George, 1968), there seems to be other forms of the disease in which thymic aplasia is only partial and some thymic tissue can be detected microscopically (Lischner & Di George, 1969; Lischner, 1974). In such a case of partial thymic aplasia we have investigated the numbers and in vitro functions of the peripheral T lymphocytes found, as well as the in vitro capability of human bone marrow cells to differentiate into T lymphocytes (i.e. cells expressing surface antigenic markers recognized by a specific anti-T-cell serum) under the influence of normal thymic extracts (Touraine et al., 1974b).
MATERIALS AND METHODS Case report A 1-month-old female patient was referred to us for dysphagia, cardiopathy and tetany. Her 19-year-old mother was a first cousin to her father and had been in contact with rubella during the 2nd month of pregnancy (she then received a y-globulin injection; anti-rubella antibodies were sought after delivery: no specific IgM were detected but the titre of anti* Present address and correspondence: Dr J. L. Touraine, Transplantation and Immunobiology Unit, Clinic of Nephrology (Pr J. Traeger), Pav. P, H6pital Edouard Herriot, 69003, Lyon, France.
39
40
J. L. Touraine et al.
rubella IgG increased). This infant had retrognatism, hypertelorism, abnormalities of her ears and her tongue, tetralogy of Fallot and double aortic arch with oesophageal compression. Hypocalcaemic tetany was related to hypoparathyroidism; the level of immunoreactive parathormone in serum was
