Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2022; 21: 163-168
Клинический случай синдрома аутовоспаления с PLCγ2-ассоциированным дефицитом антител и иммунной дисрегуляцией
https://doi.org/10.24287/1726-1708-2022-21-4-163-168Аннотация
Работа посвящена редкому варианту первичного иммунодефицита из группы моногенных аутовоспалительных заболеваний с PLCy2-ассоциированным дефицитом антител и иммунной дисрегуляцией (APLAID). В статье представлен наш опыт ведения пациента 7 лет с этим синдромом, а также приведены ключевые аспекты патогенеза и клинической картины на основании анализа известных случаев данного заболевания. Отсутствие установленных критериев и методов лечения APLAID обусловлено редкостью встречаемости и относительной новизной описанной нозологии. Нами представлен опыт терапии с использованием ингибитора фактора некроза опухоли-a с последующей оценкой эффективности проводимого лечения и нежелательных явлений. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
1. Zhou Q., Lee G.S., Brady J., Datta S., Katan M., Sheikh A., et al. A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cc2, Causes a Dominantly Inherited Autoinflammatory Disease With Immunodeficiency. Am J Hum Genet 2012; 91: 713–20. DOI:10.1016/j.ajhg.2012.08.006
2. Kutukculer N., Topyildiz E., Berdeli A., Guven Bilgin B., Aykut А., Durmaz А., et al. Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference. Clin Case Rep 2021; 9 (4): 2023–31. DOI:10.1002/ccr3.3934
3. Jackson J.T., Mulazzani Е., Nutt S.L., Masters S.L. The role of PLCg2 in immunological disorders, cancer, and neurodegeneration. J Biol Chem 2021; 297 (2): 100905. DOI:10.1016/j.jbc.2021.100905
4. Koss H., Bunney T.D., Behjati S., Katan M. Dysfunction of phospholipase Cg in immune disorders and cancer. Trends Biochem Sci 2014; 39: 603–11. DOI:10.1016/j.tibs.2014.09.004
5. Berridge M.J. Inositol trisphosphate and calcium signalling. Nature 1993; 361: 315–25. DOI:10.1038/361315a0
6. Gresset A., Hicks S.N., Harden T.K., Sondek J. Mechanism of phosphorylation-induced activation of phospholipase C-gamma isozymes. J Biol Chem 2010; 285: 35836–47. DOI:10.1074/jbc.M110.166512
7. Filippakopoulos P., Müller S., Knapp S. SH2 domains: modulators of nonreceptor tyrosine kinase activity. Curr Opin Struct Biol 2009; 19: 643–9. DOI:10.1016/j.sbi.2009.10.001
8. Novice T., Kariminia A., Del Bel K.L., Lu H., Sharma M., Lim C.J., et al. A Germline Mutation in the C2 Domain of Plcg2 Associated With Gain-ofFunction Expands the Phenotype for PLCG2-Related Diseases. J Clin Immunol 2020; 40: 267–76. DOI:10.1007/s10875-019-00731-3
9. Martín-Nalda A., Fortuny C., Rey L., Bunney T.D., Alsina L., Esteve-Solé A., et al. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. J Clin Immunol 2020; 40: 987–1000. DOI:10.1007/s10875-020-00794-7
10. Morán-Villaseñor E., Saez-deOcariz M., Torrelo A., Arostegui J.I., Yamazaki-Nakashimada M.A., Alcántara-Ortigoza M.A., et al. Expanding the Clinical Features of Autoinflammation and Phospholipase Cg2-Associated Antibody Deficiency and Immune Dysregulation by Description of a Novel Patient. J Eur Acad Dermatol Venereol 2019; 33: 2334–39. DOI:10.1111/jdv.15918
11. Khabbazi A., Rahbar Kafshboran H., Nasiri Aghdam M., Nouri Nojadeh J., Daghagh H., Daneshmandpour Y., et al. A New Report of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) With a Homozygous Pattern From Iran. Immunol Lett 2020; 221: 27–32. DOI:10.1016/j.imlet.2020.01.008
12. Neves J.F., Doffinger R., Barcena-Morales G., Martins C., Papapietro O., Plagnol V., et al. Novel PLCG2 Mutation in a Patient with APLAID and Cutis Laxa. Front Immunol 2018; 9: 2863. DOI:10.3389/fimmu.2018.02863
13. Torrelo A., Vera A., Portugués M., de Prada I., Sanz A., Colmenero I., et al. Perforating neutrophilic and granulomatous dermatitis of the newborn: a clue to immunodeficiency. Pediatr Dermatol 2007; 24: 211–5. DOI:10.1111/j.1525-1470.2007.00388.x
14. Wu N., Zhang B., Wang T., Shen M, Zeng X. Case Report: A Rare Case of Autoinflammatory Phospholipase Cg2 (PLCg2)-Associated Antibod y Deficiency and Immune Dysregulation Complicated with Gangrenous Pyoderma and Literature Review. Front Immunol 2021; 12: 667430. DOI:10.3389/fimmu.2021.667430
15. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17 (5): 405–24. DOI:10.1038/gim.2015.30
16. Козлова А.Л., Бурлаков В.И., Нестеренко З.А., Блудова В.О., Райкина Е.В., Варламова Т.В. и др. Криопирин-ассоциированный периодический синдром с оценкой эффективности и безопасности терапии анакинрой: опыт одного Центра. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2022; 21 (1): 88–92. DOI:10.24287/1726-1708-2022-21-1-88-92
17. Tufan A., Lachmann H.J. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci 2020; 50 (7): 1591–610. DOI:10.3906/sag-2008-11
Pediatric Hematology/Oncology and Immunopathology. 2022; 21: 163-168
A case report of autoinflammation and PLCy2-associated antibody deficiency and immune dysregulation
https://doi.org/10.24287/1726-1708-2022-21-4-163-168Abstract
This paper presents a case of rare primary immunodeficiency belonging to the group of monogenic autoinflammatory diseases with PLCy2-associated antibody deficiency and immune dysregulation (APLAID). Here we describe our experience in the management of a 7-year-old child with this syndrome and discuss key information about the pathogenesis and clinical manifestations of APLAID based on the analysis of the known cases. Due to the rarity and novelty of the disease, there is a lack of established criteria for the identification and diagnosis of APLAID and no established standard of care. We report our experience of treating APLAID with a tumor necrosis factor-a inhibitor and our analysis of the effectiveness of treatment and adverse events. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Zhou Q., Lee G.S., Brady J., Datta S., Katan M., Sheikh A., et al. A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cc2, Causes a Dominantly Inherited Autoinflammatory Disease With Immunodeficiency. Am J Hum Genet 2012; 91: 713–20. DOI:10.1016/j.ajhg.2012.08.006
2. Kutukculer N., Topyildiz E., Berdeli A., Guven Bilgin B., Aykut A., Durmaz A., et al. Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference. Clin Case Rep 2021; 9 (4): 2023–31. DOI:10.1002/ccr3.3934
3. Jackson J.T., Mulazzani E., Nutt S.L., Masters S.L. The role of PLCg2 in immunological disorders, cancer, and neurodegeneration. J Biol Chem 2021; 297 (2): 100905. DOI:10.1016/j.jbc.2021.100905
4. Koss H., Bunney T.D., Behjati S., Katan M. Dysfunction of phospholipase Cg in immune disorders and cancer. Trends Biochem Sci 2014; 39: 603–11. DOI:10.1016/j.tibs.2014.09.004
5. Berridge M.J. Inositol trisphosphate and calcium signalling. Nature 1993; 361: 315–25. DOI:10.1038/361315a0
6. Gresset A., Hicks S.N., Harden T.K., Sondek J. Mechanism of phosphorylation-induced activation of phospholipase C-gamma isozymes. J Biol Chem 2010; 285: 35836–47. DOI:10.1074/jbc.M110.166512
7. Filippakopoulos P., Müller S., Knapp S. SH2 domains: modulators of nonreceptor tyrosine kinase activity. Curr Opin Struct Biol 2009; 19: 643–9. DOI:10.1016/j.sbi.2009.10.001
8. Novice T., Kariminia A., Del Bel K.L., Lu H., Sharma M., Lim C.J., et al. A Germline Mutation in the C2 Domain of Plcg2 Associated With Gain-ofFunction Expands the Phenotype for PLCG2-Related Diseases. J Clin Immunol 2020; 40: 267–76. DOI:10.1007/s10875-019-00731-3
9. Martín-Nalda A., Fortuny C., Rey L., Bunney T.D., Alsina L., Esteve-Solé A., et al. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. J Clin Immunol 2020; 40: 987–1000. DOI:10.1007/s10875-020-00794-7
10. Morán-Villaseñor E., Saez-deOcariz M., Torrelo A., Arostegui J.I., Yamazaki-Nakashimada M.A., Alcántara-Ortigoza M.A., et al. Expanding the Clinical Features of Autoinflammation and Phospholipase Cg2-Associated Antibody Deficiency and Immune Dysregulation by Description of a Novel Patient. J Eur Acad Dermatol Venereol 2019; 33: 2334–39. DOI:10.1111/jdv.15918
11. Khabbazi A., Rahbar Kafshboran H., Nasiri Aghdam M., Nouri Nojadeh J., Daghagh H., Daneshmandpour Y., et al. A New Report of Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) With a Homozygous Pattern From Iran. Immunol Lett 2020; 221: 27–32. DOI:10.1016/j.imlet.2020.01.008
12. Neves J.F., Doffinger R., Barcena-Morales G., Martins C., Papapietro O., Plagnol V., et al. Novel PLCG2 Mutation in a Patient with APLAID and Cutis Laxa. Front Immunol 2018; 9: 2863. DOI:10.3389/fimmu.2018.02863
13. Torrelo A., Vera A., Portugués M., de Prada I., Sanz A., Colmenero I., et al. Perforating neutrophilic and granulomatous dermatitis of the newborn: a clue to immunodeficiency. Pediatr Dermatol 2007; 24: 211–5. DOI:10.1111/j.1525-1470.2007.00388.x
14. Wu N., Zhang B., Wang T., Shen M, Zeng X. Case Report: A Rare Case of Autoinflammatory Phospholipase Cg2 (PLCg2)-Associated Antibod y Deficiency and Immune Dysregulation Complicated with Gangrenous Pyoderma and Literature Review. Front Immunol 2021; 12: 667430. DOI:10.3389/fimmu.2021.667430
15. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17 (5): 405–24. DOI:10.1038/gim.2015.30
16. Kozlova A.L., Burlakov V.I., Nesterenko Z.A., Bludova V.O., Raikina E.V., Varlamova T.V. i dr. Kriopirin-assotsiirovannyi periodicheskii sindrom s otsenkoi effektivnosti i bezopasnosti terapii anakinroi: opyt odnogo Tsentra. Voprosy gematologii/onkologii i immunopatologii v pediatrii 2022; 21 (1): 88–92. DOI:10.24287/1726-1708-2022-21-1-88-92
17. Tufan A., Lachmann H.J. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci 2020; 50 (7): 1591–610. DOI:10.3906/sag-2008-11
