Heredity
Incontinentia pigmenti is inherited in this pattern.
What is X-linked dominant?
IP can affect these two senses due to ocular and neural involvement.
What are vision and hearing?
This is the primary signaling pathway affected by mutations in the NEMO gene.
What is the NF-κB pathway?
IP is short for this rare genetic disorder.
What is Incontinentia Pigmenti?
Males with the IP-causing NEMO mutation typically do not survive because they lack this.
What is a 2nd X-chromosome?
This visible symptom follows a classic pattern in infants with IP.
What is a blistering rash (along Blaschko’s lines)?
The NEMO protein is essential for activating this type of immune response.
What is the innate immune response?
NEMO stands for this full gene name.
What is NF-κB Essential Modulator?
A female has a 50% chance of passing the IKBKG mutation to her children if she carries it on one X chromosome. What’s this inheritance principle called?
What is Mendelian Genetics?
IP often results in missing or irregularly shaped _____.
What are teeth?
Without functional NEMO, this process in cells is impaired, leading to increased cell death.
What is cell survival signaling?
This chromosome carries the IKBKG/NEMO gene.
What is the X chromosome?
If a mutation in the IKBKG gene occurs spontaneously, it's called this kind of mutation.
What is a de novo mutation?
Neurological complications may include these two serious conditions.
What are seizures and developmental delays?
This type of mutation is most commonly found in the IKBKG/NEMO gene in IP patients.
What is a recurrent exon 4–10 deletion?
Approximately what percentage of IP cases are caused by the same NEMO gene deletion? (BONUS: What is the deletion?)
What is 90%? (BONUS: exons 4-10)
This biological process causes IP symptoms to vary between females, even with the same mutation.
What is X-chromosome inactivation (lyonization)?
This multi-stage skin progression often starts at birth and ends in adulthood with dark, swirled patches.
What are vesicular, verrucous, hyperpigmented, and atrophic stages?
What are the two types of innate immunity?
What are canonical (NEMO dependent) and non-canonical (NEMO independent)?
This technology allows scientists to model potential treatments for IP.
What are iPSCs?