Novel SERPING1 mutation causing Hereditary Angioedema in a Brazilian family

被引:0
|
作者
Ferraro, M. E. [1 ]
Sarti, W. [1 ]
Castelli, E. C. [1 ]
Donadi, E. A. [1 ]
Bork, K. [2 ]
Arruda, L. K. [1 ]
机构
[1] Univ Sao Paulo, Sch Med, BR-14049 Ribeirao Preto, Brazil
[2] Johannes Gutenberg Univ Mainz, Mainz, Germany
关键词
D O I
10.1016/j.jaci.2008.12.363
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
379
引用
收藏
页码:S101 / S101
页数:1
相关论文
共 50 条
  • [31] Characterization of a deletion mutation in the SERPING1 gene identified in a patient with hereditary angioedema type I
    Hisamoto, T.
    Yasuno, S.
    Sugimoto, H.
    Shimomura, Y.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (05) : S142 - S142
  • [32] Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema
    Maia, Luana Sella Motta
    Burger, Bettina
    Ghannam, Arije
    Nunes, Fernanda Leonel
    Ferriani, Mariana Paes Leme
    Dias, Marina Mendonca
    Arruda, Luisa Karla
    Drouet, Christian
    Cichon, Sven
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (23)
  • [33] Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema
    Szabo, Edina
    Csuka, Dorottya
    Andrasi, Noemi
    Varga, Lilian
    Farkas, Henriette
    Szilagyi, Agnes
    FRONTIERS IN ALLERGY, 2022, 3
  • [34] Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema
    Steiner, U. C.
    Keller, M.
    Schmid, P.
    Cichon, S.
    Wuillemin, W. A.
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2017, 188 (03): : 430 - 436
  • [35] Correction to: Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene
    Jyoti Sharma
    Ankur Kumar Jindal
    Aaqib Zaffar Banday
    Anit Kaur
    Amit Rawat
    Surjit Singh
    Hilary Longhurst
    Clinical Reviews in Allergy & Immunology, 2021, 60 : 316 - 317
  • [36] Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families
    Nicolicht, Priscila
    Faria, Douglas O. S.
    Martins-Silva, Leonardo
    Maia, Luana S. M.
    Moreno, Adriana S.
    Karla Arruda, L.
    Motta, Antonio A.
    Grumach, Anete S.
    Pesquero, Joao B.
    GENE, 2019, 685 : 179 - 185
  • [37] UNCOVERING A NOVEL AND ELUSIVE SERPING1 DELETION IN HEREDITARY ANGIOEDEMA WITH PLASMINOGEN AND MASP-1 MODIFIERS
    Wetherby, K.
    Chiao, J.
    Hou, S.
    Faulkner, E.
    Guo, Y.
    Wan, L.
    Yu, J.
    Li, H.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2024, 133 (06) : S25 - S25
  • [38] Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene
    Rijavec, Matija
    Korosec, Peter
    Silar, Mira
    Zidarn, Mihaela
    Miljkovic, Jovan
    Kosnik, Mitja
    PLOS ONE, 2013, 8 (02):
  • [39] Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India
    Jindal, Ankur K.
    Rawat, Amit
    Kaur, Anit
    Sharma, Dhrubajyoti
    Suri, Deepti
    Gupta, Anju
    Garg, Ravinder
    Dogra, Sunil
    Saikia, Biman
    Minz, Ranjana W.
    Singh, Surjit
    PEDIATRIC ALLERGY AND IMMUNOLOGY, 2021, 32 (03) : 599 - 611
  • [40] A novel SERPING1 gene variant causing angioedema in a patient with low C1q levels
    Calvo-Ferrer, Maria-Alicia
    Martin-Rodriguez, Samuel
    Ortega-Unanue, Nerea
    Blasco-Sarramian, Angel-Javier
    Bernardo-Gonzalez, Ivan
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2019, 123 (06) : 610 - 612