Results 161 to 170 of about 30,985 (250)

When to consider an inborn error of immunity: clues for physicians

open access: yesInternal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Mevalonate kinase deficiency: Evidence for a phenotypic continuum

open access: yes, 2004
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are ...
Wevers, R A   +6 more
core  

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