Abstract
SCID as a genetic disease ia inherited either as an autosomal or a sex-linked recessive with an incidence of 1:2,000,000 or 1:10,000, respectively. Over a six year period, we have identified 8 infants from a single ethnic group with a SCID rate greater than 1:3500. Three infants were born during a recent 3 month period, only one with a family history of SCID. In addition to a high group frequency and unusual clustering of cases, this SCID syndrome variant included a failure to clear ØX174 from the blood, an absence of a common HLA type or a history of consanguinity. By electron microscopy, a large percentage of peripheral blood lymphocytes contained cytoplasmic inclusions classified as parallel tubular arrays (PTAs), occurring in both E and EAC rosetting cells. The average number of inclusions was 15 times greater in these infants (range 13-53%) than in lymphocytes from age matched control infants (range 0-7%). Similar inclusions in as high a number have been described in Hodgkin's disease, chronic lymphocytic leukemia and Epstein-Barr virus (EBV) infections, diseases which also have occurred in clusters. No evidence for EBV was determined serologically in any infant or in 2 of 3 mothers. In one infant successfully transplanted, PTAs have decreased in number. Explanations possible for the PTAs and the SCID variant are: 1) PTAs are abnormal metabolic organelles; or 2) are viral inclusions associated with SCID; or 3) are specific acquired virus.
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Sieber, O., Jones, J., Payne, C. et al. LYMPHOCYTIC INTRACYTOPLASMIC INCLUSIONS IN INFANTS WITH A VARIANT OF SEVERE COMBINED IMMUNODEFICIENCY (SCID). Pediatr Res 11, 494 (1977). https://doi.org/10.1203/00006450-197704000-00747
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DOI: https://doi.org/10.1203/00006450-197704000-00747