The objective of this study was to determine the utility of anti-nuclear antibody (ANA) testing
in the investigation of cutaneous and other lupus symptoms in female carriers of X-linked …

Abstract Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to
a defect in one of the NADPH oxidase complex subunits; 70% of cases are X-linked, due to …

X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially
described in patients with X-linked lymphoproliferative syndrome (XLP) who had no …

The optimal approach to stem cell transplantation in children with immunodeficiency who
lack a matched family donor is controversial. Unrelated donor stem cell transplantation gives …

Immune deficiency can be part of CHARGE syndrome but often receives only limited
attention. We present two patients with CHARGE syndrome confirmed CHD7 mutations who …

Type I IFNs, a family of cytokines that signal through a single receptor and signaling
mechanism, were originally named for their ability to interfere with viral replication. While …

Background Chronic granulomatous disease (CGD) is a primary immunodeficiency
characterized by serious infections and inflammation. It can be managed conservatively with …

See Dasgupta et al.(doi: 10.1093/awv237) for a scientific commentary on this article. Defects
of mitochondrial dynamics are emerging causes of neurological disease. In two children …

The occurrence of secondary DNA transfer has been previously established. However, the
transfer of DNA through an intermediary has not been revisited with more sensitive current …

Abstract Purpose Chronic Granulomatous Disease (CGD) is a rare primary
immunodeficiency that predisposes to life-threatening infections and inflammation …