Erika Henkelman
YOU?
Author Swipe
View article: A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD Open
View article: A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHAD
A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHAD Open
Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human …
View article: Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay Open
Background Helios (encoded by IKZF2 ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and fu…
View article: Topical skin adhesives for laceration repair in children
Topical skin adhesives for laceration repair in children Open
Lacerations in children are common and TSAs are useful alternatives to sutures. They achieve comparable outcomes to suturing in appropriately selected wounds. Appropriate lacerations are small, superficial, appropriately cleaned, and have …
View article: Nodular fasciitis: A rapidly enlarging destructive periorbital mass in an infant
Nodular fasciitis: A rapidly enlarging destructive periorbital mass in an infant Open
View article: ‘Finding Gory’—bringing home an unwanted aquatic traveler
‘Finding Gory’—bringing home an unwanted aquatic traveler Open