Hans D. Ochs

TL;DR: Wiskott-Aldrich syndrome is caused by mutations of the Wiskott Aldrich protein gene, which codes for a cytoplasmic protein with multiple functions as discussed by the authors.

TL;DR: Analysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.

TL;DR: In this article, it was shown that infants born to mothers infected with the human immunodeficiency virus (HIV) are at risk for exposure to HIV in utero, during delivery, and after birth in breast milk or through other close contact.

TL;DR: The most comprehensive summary of demographic and clinical profiles derived from a total of 195 IPEX patients with deleterious mutations in FOXP3 is reported, providing new insights into genotype/phenotype correlations, and clinical and genetic factors associated with increased risk of death and response to treatment strategies.