NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
Abstract
:1. Introduction
2. Clinical Case Reports
2.1. Patient 1: An Early Digestive and systemic Inflammation with Shocks
2.2. Patient 2: Recurrent Macrophagic Activation Syndrome
3. Literature Review
4. Discussion
- Mutations within the NBD—Kitamura et al. [11] showed that a mutation in this domain promotes the oligomerization of the inflammasome with an increased response to usual stimuli.
- Mutations in LRR domain, described as a regulator domain. Its absence results in a constitutively active NLRC4 inflammasome [3].
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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NLRC4 Gof Mutation | Symptoms | Lab Exams | |||||||
---|---|---|---|---|---|---|---|---|---|
Fever | Gastrointestinal | Hemodynamical | Hematological | Rheumatologic | Dermatological | Other | Inflammation Markers Elevated (Ferritin, CRP) | Elevated IL-18 | |
c.620G>A, p.Arg207LysCase 1 | + | + | + | + | − | + | − | + | + |
c.1010C>A, p.Thr337AsnCase 2 | + | + | − | + | − | − | − | + | NA |
c.1009A > T, p.Thr337Asn [5] | + | − | − | + | − | − | − | + | NA |
c.1022T>C, p.Val341Ala [6,7] | + | + | − | + | + | + | Respiratory (acute respiratory distress syndrome, Intra alveolar hemorrhage) /Renal (Acute failure) | + | + |
c.1021G>C, p.Val341Leu [8] | + | + | + | + | − | + | − | + | + |
c.1009A > T, p.Thr337Ser [9] | + | + | − | + | − | − | − | + | NA |
c.512C> T p.Ser171Phe [10] | + | + | − | + | − | − | − | NA | NA |
c.1589A>C, p. His443Pro [11] | + | − | − | − | + | + | − | − | NA |
c.1333T>C p.Ser445Pro [12] | − | − | − | − | + | + | − | − | NA |
c.514G>A p.Gly172Ser [13] | + | − | − | − | − | + | − | NA | NA |
c.529A>G, p. Thr177Asn [14] | + | + | − | - | − | + | Neurological (mental retardation, aseptic meningitis, sensorineural deafness, brain atrophy) | NA | NA |
c.1965G>C, p. Trp655Cys [15] | + | + | − | + | − | + | − | + | + |
c.1970A> T, p.Gln657Leu [16] | + | + | − | + | − | + | − | + | + |
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Bardet, J.; Laverdure, N.; Fusaro, M.; Picard, C.; Garnier, L.; Viel, S.; Collardeau-Frachon, S.; Guillebon, J.-M.D.; Durieu, I.; Casari-Thery, C.; et al. NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood. J. Clin. Med. 2021, 10, 4369. https://doi.org/10.3390/jcm10194369
Bardet J, Laverdure N, Fusaro M, Picard C, Garnier L, Viel S, Collardeau-Frachon S, Guillebon J-MD, Durieu I, Casari-Thery C, et al. NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood. Journal of Clinical Medicine. 2021; 10(19):4369. https://doi.org/10.3390/jcm10194369
Chicago/Turabian StyleBardet, Juliette, Noémie Laverdure, Mathieu Fusaro, Capucine Picard, Lorna Garnier, Sébastien Viel, Sophie Collardeau-Frachon, Jean-Marie De Guillebon, Isabelle Durieu, Clémence Casari-Thery, and et al. 2021. "NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood" Journal of Clinical Medicine 10, no. 19: 4369. https://doi.org/10.3390/jcm10194369
APA StyleBardet, J., Laverdure, N., Fusaro, M., Picard, C., Garnier, L., Viel, S., Collardeau-Frachon, S., Guillebon, J.-M. D., Durieu, I., Casari-Thery, C., Mortamet, G., Laurent, A., & Belot, A. (2021). NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood. Journal of Clinical Medicine, 10(19), 4369. https://doi.org/10.3390/jcm10194369