Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency with microthrombocytopenia, eczema, recurrent infections, autoimmune disorders, and malignancies that are life-threatening in the majority of patients. In this long-term, retrospective, multicenter study, we analyzed events that occurred in 96 WAS patients who received transplants between 1979 and 2001 who survived at least 2 years following hematopoietic stem-cell transplantation (HSCT). Events included chronic graft-versus-host disease (cGVHD), autoimmunity, infections, and sequelae of before or after HSCT complications. Three patients (3%) died 2.1 to 21 years following HSCT. Overall 7-year event-free survival rate was 75%. It was lower in recipients of mismatched related donors, also in relation with an older age at HSCT and disease severity. The most striking finding was the observation of cGVHD-independent autoimmunity in 20% of patients strongly associated with a mixed/split chimerism status (P < .001), suggesting that residual-host lymphocytes can mediate autoimmune disease despite the coexistence of donor lymphocytes. Infectious complications (6%) related to splenectomy were also significant and may warrant a more restrictive approach to performing splenectomy in WAS patients. Overall, this study provides the basis for a prospective, standardized, and more in-depth detailed analysis of chimerism and events in long-term follow-up of WAS patients who receive transplants to design better-adapted therapeutic strategies.     

A tale of 2 cities: a comparison of demographic details, source of referral, spectrum of infection and contraceptive practice in patients under 16 years attending genitourinary medicine clinics in London and Swansea

Sexually transmitted infections (STIs) in young people are increasing, with children aged less than 16 years being particularly vulnerable. We compared the demographic details, spectrum of infection, contraceptive practice and source of referral in patients aged less than 16 years attending 2 genitourinary clinics, one in Swansea and the other in London. In the London population, children aged less than 16 years represented 0.7% of the total new attendances compared with 1.4% in Swansea. The female to male ratio was almost 4:1 in both clinics with most infections confined to female attenders. In females the incidence of chlamydial infection, genital warts and anaerobic (bacterial) vaginosis was 5.5%, 19% and 8%, respectively in London compared with 27%, 32% and 36% in Swansea. Seventy-two per cent of patients attending the clinic in London were self referred compared with 40% in Swansea. Contraceptive practice was also markedly different in the 2 populations, and over one-third of children in both clinics used no contraception. The high incidence of STIs in both populations and low use of contraception has serious implications for the sexual health of young people and emphasizes the need for effective sexual health education at an early age.     

Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency

Journal of Clinical Immunology -     

Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan

Journal of Clinical Immunology -