966 A SEVERE CHROMOSOMAL BREAK SYNDROME WITH PROFOUND IMMUNODEFICIENCY

Abstract

The Chromosomal Break Syndromes: Ataxia Telangiectasia, Fanconi's Anemia, and Bloom's Syndrome are associated with growth failure, microcephaly, neurologic abnormalities, immunodeficiency, failure of secondary sexual characteristics and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21 year old female with more severe chromosomal breakage, immunodeficiency and growth failure than in any of the above disorders. It is of note that she has not yet developed a malignancy. Growth failure was apparent in the first year of life and lymphopenia and hypogammaglobulinemia at age 6. At 18 years of age, her weight was 22.6kg (50th% for 7 years) height was 129 cm (50th% for 8 years) OFC was 42 cm (50th% for 6 months). The peripheral blood contained 400–900 Iymphocytes/mm³ with 32% T₁₁ cells, 17% T₄, and 21% T8 cells. The proliferative response to the mitogens PHA, PWM and ConA was less than 5% of control. There were 0.2% surface IgM bearing cells (nl 4–15%), and serum IgG was 185 mg/dl, IgM 7 mg/dl, IgA <5 mg/dl. In lymphocyte cultures stimulated with mitogens for T cells (PHA/TPA) or B cells (EBV), nearly half the metaphases examined had one or more chromosome breaks or rearrangements, but there was no evidence of a cytogenetically-abnormal clone. These findings suggest that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage contribute to the occurrence of malignancy in the Chromosomal Break Syndromes.

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