Definition

The NLRC4 gene encodes an inflammasome component. Gain-of-function mutations lead to excessive caspase-1 activation and IL-1β/IL-18 release, producing at one end of the phenotypic spectrum cold-triggered FCAS4 (rash, fever, joint pain) and at the other end AIFEC, which begins in the neonatal period or infancy with severe chronic diarrhea and intestinal involvement; in some cases macrophage activation syndrome is also present.

Gene/region examined

NLRC4 - Exon 3, NLRC4 - Exon 4, NLRC4 - Exon 5, NLRC4 - Exon 6, NLRC4 - Exon 7, NLRC4 - Exon 8, NLRC4 - Exon 9

Method

Sequence analysis

Accepted sample types

EDTA blood

Inheritance

Hereditary, autosomal dominant (AD), usually de novo gain-of-function variants.

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Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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