نتائج البحث

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

• Authors : Bagyinszky E; Graduate School of Environment Department of Industrial and Environmental Engineering, Gachon University, Seongnam 13120, Republic of Korea.; An SSA

Subjects: Tumor Necrosis Factor alpha-Induced Protein 3*/Tumor Necrosis Factor alpha-Induced Protein 3*/Tumor Necrosis Factor alpha-Induced Protein 3*/genetics ; Tumor Necrosis Factor alpha-Induced Protein 3*/Tumor Necrosis Factor alpha-Induced Protein 3*/Tumor Necrosis Factor alpha-Induced Protein 3*/metabolism ; Haploinsufficiency*/Haploinsufficiency*/Haploinsufficiency*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 29; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q.

• Authors : Zhang F; Department of Neonatology, Hunan Children's Hospital, Changsha, Hunan, China.; Zhang L

Subjects: Haploinsufficiency*/Haploinsufficiency*/Haploinsufficiency*/genetics ; Chromosomes, Human, Pair 6*/Chromosomes, Human, Pair 6*/Chromosomes, Human, Pair 6*/genetics ; Sequence Deletion*

• Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2024 Jan 05; Vol. 22 (1), pp. 12. Date of Electronic Publication: 2024 Jan 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report.

• Authors : Wakatsuki R; Department of Pediatrics, Tokyo Bay Urayasu Ichikawa Medical Center, Chiba, Japan.; Hatai Y

Subjects: Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/genetics ; Amyloidosis*; Humans

• Source: International journal of rheumatic diseases [Int J Rheum Dis] 2023 May; Vol. 26 (5), pp. 973-976. Date of Electronic Publication: 2023 Jan 15.Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model:

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Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.

• Authors : Deshayes S; Department of Internal Medicine, CHU de Caen Normandie, Caen, France.; Normandie Univ, UNICAEN, Caen, France.

Subjects: Haploinsufficiency* ; Liver Cirrhosis*; Aged

• Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2021 Aug; Vol. 41 (8), pp. 1894-1900. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Clinical characteristics and genetic analysis of A20 haploinsufficiency.

• Authors : Zhang D; Capital Institute of Pediatrics, 2 yabao road, Chaoyang District, Beijing, China.; Su G

Subjects: Autoantibodies*/Autoantibodies*/Autoantibodies*/analysis ; Autoantibodies*/Autoantibodies*/Autoantibodies*/classification ; Gastrointestinal Diseases*/Gastrointestinal Diseases*/Gastrointestinal Diseases*/diagnosis

• Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 May 24; Vol. 19 (1), pp. 75. Date of Electronic Publication: 2021 May 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report.

• Authors : Li GM; Department of Rheumatology, Children's Hospital of Fudan University, 399 Wan-yuan road, Shanghai, 201102, China.; Liu HM

Subjects: Asian People/Asian People/Asian People/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics ; Haploinsufficiency/Haploinsufficiency/Haploinsufficiency/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2019 Jul 12; Vol. 20 (1), pp. 124. Date of Electronic Publication: 2019 Jul 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

• Authors : Aslani N; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.; Pediatric Rheumatology Society of Iran, Tehran, Iran.

Subjects: Cyclosporins*/Cyclosporins*/Cyclosporins*/genetics ; Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/diagnosis ; Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/genetics

• Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2022 Sep 05; Vol. 20 (1), pp. 78. Date of Electronic Publication: 2022 Sep 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Paediatric Behçet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.

• Authors : Kul Cinar O; Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK.; Division of Medicine, National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK.

• Source: Journal of clinical medicine [J Clin Med] 2022 Feb 26; Vol. 11 (5). Date of Electronic Publication: 2022 Feb 26.Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383

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Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.

• Authors : Girardelli M; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Valencic E

Subjects: Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/drug therapy ; Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/genetics ; Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/physiopathology

• Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 May 10; Vol. 19 (1), pp. 70. Date of Electronic Publication: 2021 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.

• Authors : Zhang C; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing Dongcheng District, Beijing, 100730, China.; Yu Z

Subjects: Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/drug therapy ; Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/genetics ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/drug therapy Periodic fever, familial, autosomal dominant

• Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Oct 17; Vol. 21 (1), pp. 124. Date of Electronic Publication: 2023 Oct 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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