P J Ferguson
Affiliation: University of Virginia
- Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndromeP J Ferguson
Department of Pediatrics, University of Virginia, Charlottesville, USA
Am J Med Genet 90:390-7. 2000..We conclude that this kindred has an X-linked disorder, distinct from WAS, that results in autoimmunity and variable immunodeficiency. The responsible locus maps to the pericentromeric region Xp11.23 to Xq21.1...
- Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)P J Ferguson
Department of Pediatrics, Division of Hematology Oncology Rheumatology, University of Iowa, Iowa City, IA, USA
J Med Genet 42:551-7. 2005..The objectives of this study were to map, identify, and characterise the Majeed syndrome causal gene and to speculate on its function and role in skin and bone inflammation...
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3C L Bennett
Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
Nat Genet 27:20-1. 2001..Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3...