A special report: Four year study of a boy with combined immune deficiency maintained in strict reverse isolation from birth

Abstract

A 4-year study of a boy with combined immune deficiency is presented, and the impact of this disease on various aspects of his growth and development is examined. There is no evidence of immune deficiency in either parent or in the genetic background on the maternal side. 3 children of a brother of the mother's father may have had immune deficiencies but two have grown to be teenagers with no problems. Another died. At autopsy, however, lymph nodes appeared normal. The deceased older brother had severe combined immune deficiency (SCID). After a successful germ-free birth, the male infant (DV) was placed in the isolator. The continued maintenance of this patient in a gnotobiotic state has provided opportunity for serial studies in an uncomplicated disease state. Although he has not remained germ free, this technology has been successful in preventing infection for 4 years in a child who, otherwise, would have been overwhelmed with infection. In addition, the studies have shown that the significantly simpler microflora in the early part of life has not been incompatible with normal growth and development. Studies being carried out may help define more exactly the nature of the immune defect in SCID patients. Such information could increase the understanding of basic immune mechanisms and lead to information which could be useful in treatment of other immunologic disorders. Continued monitoring of the changes which have occurred in the immune system will be needed to determine whether the improvements will proceed to a stage where the immune apparatus is functioning adequately. Psychiatric evaluation in this patient demonstrates that it is possible to rear a child, under conditions of strict reverse isolation, who can respond with normal affective, cognitive, and intellectual ability to age 4 years. This case particularly illustrated the importance of providing a child in an atypical environment with consistent and appropriate language stimulation, even if the child is of above average intelligence. The implementation of such a planned program for children who are hospitalized for long periods or who are in an atypical environment during language-learning years should be considered.