Abstract
A term-born 4 months old male infant presented with recurrent septicemia, no palpable lymph nodes, hepatosplenomegaly, and high leucocyte (1.5 - 8 × 104/μl) and lymphocyte (0.6 - 6 × 104'μl) counts. Flowcytometric lymphocyte phenotyping by a panel of monoclonal antibodies revealed the presence of CD2, CD3/TR, CD8, CD38, as well as class I and II MHC antigens, whereas the CD4 antigen was virtually absent. B cells and immunoglobulins were present but no specific antibodies could be detected. NK cells were elevated in number; cytotoxicity towards K562 was 30% of normal. In accordance with the phenotypical absence of T-helper cells, no proliferative response could be provoked by T dependent mitogens (PHA, ConA, PWM) or alloantigens. Addition of IL-2 did not enhance lymphocyte proliferation. IL-2 receptor was not expressed on resting or stimulated (PHA or PHA/TP1) T cells. Circulating maternal cells were not detected (HLA typing and cytogenetics); therefore, in utero mother to child transfer of immunocompetent cells with consecutive GVHD was unlikely to be the reason of the immunodeficient status. Thymic biopsy confirmed the diagnosis of congenital SCID. Further studies on the DNA level as well as successful treatment by haploidentical maternal BMT will be discussed. To our knowledge this is the first description of a selective T-helper cell deficiency.
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Schofer, O., Zepp, F., Zabel, B. et al. 73 BONE MARROW TRANSPLANTATION FOR SELECTIVE T-HELPER CELL DEFICIENCY (T+, B+, NK+ SCID). Pediatr Res 24, 273 (1988). https://doi.org/10.1203/00006450-198808000-0099
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DOI: https://doi.org/10.1203/00006450-198808000-0099