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2023, Number 6

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Acta Pediatr Mex 2023; 44 (6)

Very early onset inflammatory bowel disease with phospholipase C gamma 2 gene mutation (PLCG2) and immune deficiency

Corcuera DCT, Ramírez RAG, Gutiérrez MF, Lugo RSO, Yamazaki NMA

Language: Spanish
References: 18
Page: 450-460
PDF size: 390.78 Kb.


Text Extraction

No abstract.


REFERENCES

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  2. Ouahed J, Spencer E, Kotlarz D, Shouval DS, et al. Very EarlyOnset Inflammatory Bowel Disease: A Clinical ApproachWith a Focus on the Role of Genetics and UnderlyingImmune Deficiencies. Inflamm Bowel Dis 2020; 26 (6):820-842. doi: 10.1093/ibd/izz259.

  3. Arai K. Very Early-Onset Inflammatory Bowel Disease: AChallenging Field for Pediatric Gastroenterologists. PediatrGastroenterol Hepatol Nutr 2020; 23 (5): 411-422. doi:10.5223/pghn.2020.23.5.411.

  4. Pazmandi J, Kalinichenko A, Ardy RC, Boztug K. Early-onsetinflammatory bowel disease as a model disease to identifykey regulators of immune homeostasis mechanisms. ImmunolRev 2019; 287 (1): 162-185. doi:10.1111/imr.12726.

  5. Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, et al. NorthAmerican Society for Pediatric Gastroenterology, Hepatology,and Nutrition Position Paper on the Evaluation andManagement for Patients With Very Early-onset InflammatoryBowel Disease. J Pediatr Gastroenterol Nutr 2020;70 (3): 389-403. doi: 10.1097/MPG.0000000000002567.

  6. Wilkins BJ, Kelsen JR, Conrad MA. A Pattern-based PathologyApproach to Very Early-onset Inflammatory BowelDisease: Thinking Beyond Crohn Disease and UlcerativeColitis. Adv Anat Pathol 2022; 29 (1): 62-70. doi: 10.1097/PAP.0000000000000327.

  7. Tsai AP, Dong C, Lin PBC, Messenger EJ, et al. PLCG2 is associatedwith the inflammatory response and is induced byamyloid plaques in Alzheimer’s disease. Genome Med 2022;14 (1): 1-13. https://doi.org/10.1186/s13073-022-01022-0

  8. Magno L, Bunney TD, Mead E, Svensson F, et al. TREM2/PLCγ2 signalling in immune cells: function, structuralinsight, and potential therapeutic modulation. MolecularNeurodegeneration 2021; 16 (1): 1-16. https://doi.org/10.1186/s13024-021-00436-5

  9. Jackson JT, Mulazzani E, Nutt SL, Masters SL. The role ofPLCγ2 in immunological disorders, cancer, and neurodegeneration.J Biol Chem 2021; 297 (2): 100905. https://doi.org/10.1016/j.jbc.2021.100905

  10. Zhou Q, Lee GS, Brady J, Datta S, et al. A hypermorphicmissense mutation in PLCG2, encoding phospholipase Cγ2,causes a dominantly inherited autoinflammatory diseasewith immunodeficiency. Am J Hum Gen 2012: 91 (4): 713-720. https://doi.org/10.1016/j.ajhg.2012.08.006

  11. Welzel T, Oefelein L, Holzer U, Müller A, et al. Variant in thePLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review. J Clin Med 2022;11 (15): 4369. doi: 10.3390/jcm11154369.

  12. Park HS, Oh A, Keum CW, Lee J, et al. A novel likely pathogenicPLCG2 variant in a patient with a recurrent skinblistering disease and B-cell lymphopenia. Eur J Med Genet2022; 65 (1): 104387. doi: 10.1016/j.ejmg.2021.104387.

  13. Martín-Nalda A, Fortuny C, Rey L, Bunney TD, et al. SevereAutoinflammatory Manifestations and Antibody DeficiencyDue to Novel Hypermorphic PLCG2 Mutations. J Clin Immunol2020; 40 (7): 987-1000. doi: 10.1007/s10875-020-00794-7.

  14. Kutukculer N, Topyildiz E, Berdeli A, Guven Bilgin B, et al.Four diseases, PLAID, APLAID, FCAS3 and CVID and onegene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Strikingclinical phenotypic overlap and difference. Clin Case Rep2021; 9 (4): 2023-2031. doi: 10.1002/ccr3.3934.

  15. Morán-Villaseñor E, Saez-de-Ocariz M, Torrelo A, ArosteguiJI, et al. Expanding the clinical features of autoinflammationand phospholipase Cγ2-associated antibody deficiency andimmune dysregulation by description of a novel patient.J Eur Acad Dermatol Venereol 2019; 33 (12): 2334-2339.doi: 10.1111/jdv.15918.

  16. Verani RR. Transitional and mucous metaplasia of the renalcollecting ducts and renal papilla. Am J Surg Pathol 1987;11 (1): 83-4. doi: 10.1097/00000478-198701000-00012.

  17. Huang WY, Rosen S. Intrarenal urothelial transformationafter obstruction: a novel metaplasia. Kidney Int 2012; 82(4): 377-9. doi: 10.1038/ki.2012.153.

  18. Chen WY, Yang JL, Wu YH, Li LC, et al. IL-33/ST2 axis mediateshyperplasia of intrarenal urothelium in obstructiverenal injury. Exp Mol Med 2018; 50 (4): 1-11. doi: 10.1038/s12276-018-0047-8.




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