Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.

Several X-linked disorders affect females disproportionately or exclusively. These including focal dermal hypoplasia, oral-facial-digital syndrome type I (ref. 3) and epilepsy with bilateral periventricular heterotopias. X-linked dominant inheritance with male lethality is probably responsible for sex-limited expression of these disorders, as affected women have frequent spontaneous abortions and the sex ratio of their live offspring is often skewed. The same inheritance pattern has been proposed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking. We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males. Assignment of the EFMR disease locus (EFMR) to the X chromosome indicates that selective involvement of females in X-linked disease may in some instances result from male sparing rather than male lethality.

Multiple or uncommon red cell alloantibodies in women: association with autoimmune disease.

BACKGROUND: Patients with multiple or uncommon red cell (RBC) alloantibodies require special efforts in the blood bank. This study investigated whether such persons had other immune-related conditions that might help to explain or predict their propensity for RBC antibody formation. STUDY DESIGN AND METHODS: Charts were retrospectively reviewed of 29 men and 83 women with multiple (> or = 3) RBC antibodies of potential clinical significance, uncommon RBC antibodies (anti-e, -Kpb, -Jkb, -Fyb, -S, -U, -Yta, -Dib, -Ata), or both. The clinical features in 43 women with multiple antibodies were compared to those in two equal-sized control cohorts of women matched for transfusion-related diagnoses, but having either one RBC antibody or none. RESULTS: Women with uncommon RBC antibodies had a 33-percent (18/54) prevalence of autoimmune disease. Twenty-eight percent of the 43 women with multiple antibodies had autoimmune disease, compared to 14 percent of women in the cohort with one RBC antibody (p = 0.09) and 7 percent of those in the cohort without RBC antibodies (p = 0.01). Only one of the 29 men had autoimmune disease. CONCLUSION: Autoimmune disease is a common underlying factor in women who make multiple or uncommon RBC alloantibodies of potential clinical significance.

Long-term follow-up testing of red cell alloantibodies.

BACKGROUND: In previous studies, 29 to 34 percent of potentially hemolytic red cell antibodies were not detected after short-term follow-up. STUDY DESIGN AND METHODS: To examine long-term detection, records were reviewed for 44 consecutive patients who were tested more than 5 years after their potentially hemolytic red cell antibodies were first identified in this hospital. RESULTS: After 5 to 10 years, 14 (39%) of 36 Rh, Kell, and Duffy system antibodies were not detected on at least one occasion. Twenty-two other such antibodies were sought again after more than 10 years; 10 (45%) were not detected. When restimulation by pregnancy was excluded, these rates were 42 and 48 percent, respectively. CONCLUSION: Clinically significant red cell antibody formation is probably more common than previously realized, because nearly half of these antibodies are undetected after long-term follow-up.