The mature activating natural killer cell immunologic synapse is formed in distinct stages*1

Orange, Jordan S.; Geha, Raif S.; Strominger, Jack L.

doi:10.1016/j.jaci.2003.12.151

Cited by 1 publication

(4 citation statements)

References 14 publications

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“…In particular there are specific IKBKG mutations that do not cause ED (Nihues et al, 2004; Orange et al, 2004; Hanson et al, 2008). Presently this accounts for one-quarter of patients diagnosed with a clinically impactful IKBKG mutation.…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of EDA -related HED is estimated to occur in less than 1 in 100,000 newborns (Clarke, 1987) and IKBKG -related HED-ID has also been estimated to occur in approximately 1 in 250,000 newborns (Orange et al, 2004). Thus the estimated chance of their occurrence in the same patient would be 1 in 25 billion.…”

Section: Discussionmentioning

confidence: 99%

“…Bi-directional DNA gene sequencing of all EDA and IKBKG exons was performed with genomic DNA from the patients as previously described (Orange et al, 2004), and targeted gene sequencing was subsequently performed to assess mutation status in relatives. Reference sequences used for this work were: EDA (NM_001399) and IKBKG (NM_001099856).…”

Section: Methodsmentioning

confidence: 99%

“…IKBKG is located on Xq28, and HED-ID occurs in approximately 1 in 250,000 newborns (Orange et al, 2004). Here, we describe three unrelated patients with HED-ID, who were found to have mutations in both EDA and IKBKG thus raising true diagnostic challenges when considering the etiology of HED.…”

Section: Introductionmentioning

confidence: 99%

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Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

Keller¹,

Petersen²,

Ong³

et al. 2011

Front. Immun.

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Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally derived structures. Many ED-associated genes have been described, of which ectodysplasin-A (EDA) is one of the more common. The NF-κB essential modulator (NEMO encoded by the IKBKG gene) is unique in that mutations result in severe humoral and cellular immunologic defects in addition to ED. We describe three unrelated kindreds with defects in both EDA and IKBKG resulting from X-chromosome crossover. This demonstrates the importance of thorough immunologic consideration of patients with ED even when an EDA etiology is confirmed, and raises the possibility of a specific phenotype arising from coincident mutations in EDA and IKBKG.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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