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Browsing by Subject "complement component C1s inhibitor"

Now showing items 1-15 of 15

    • Ascites in a patient with episodic angio-oedema and eosinophilia: Thinking outside the box 

      Rigopoulou E.I., Ioannou M., Papadamou G., Dalekos G.N. (2017)
      Episodic angio-oedema with eosinophilia (EAE) or Gleich's syndrome is a rare condition characterised by recurrent episodes of oedema and eosinophilia, accompanied by urticaria, fever and weight gain. The presence of ascites ...

    • Clinical immunology quiz-Case 6 

      Speletas, M.; Boukas, K.; Louies, G.; Germenis, A. E. (2009)

    • Deciphering the genetics of primary angioedema with normal levels of C1 inhibitor 

      Loules G., Parsopoulou F., Zamanakou M., Csuka D., Bova M., González-Quevedo T., Psarros F., Porebski G., Speletas M., Firinu D., del Giacco S., Suffritti C., Makris M., Vatsiou S., Zanichelli A., Farkas H., Germenis A.E. (2020)
      The genetic alteration underlying the great majority of primary angioedema with normal C1 inhibitor (nl-C1-INH-HAE) cases remains unknown. To search for variants associated with nl-C1-INH-HAE, we genotyped 133 unrelated ...

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • Driving towards Precision Medicine for angioedema without wheals 

      Germenis A.E., Cicardi M. (2019)
      Evidence accumulated over the last two decades indicates that recurrent angioedema without wheals constitutes a diverse family of disorders with a much higher complexity than was previously regarded. Indicatively, during ...

    • Genetic determinants of C1 inhibitor deficiency angioedema age of onset 

      Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)
      Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...

    • Genetics of Hereditary Angioedema Revisited 

      Germenis A.E., Speletas M. (2016)
      Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

    • The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency 

      Zanichelli A., Farkas H., Bouillet L., Bara N., Germenis A.E., Psarros F., Varga L., Andrási N., Boccon-Gibod I., Castiglioni Roffia M., Rutkowski M., Cancian M. (2021)
      Hereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors ...

    • Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment 

      Magerl M., Germenis A.E., Maas C., Maurer M. (2017)
      A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients ...

    • International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency 

      Farkas H., Martinez-Saguer I., Bork K., Bowen T., Craig T., Frank M., Germenis A.E., Grumach A.S., Luczay A., Varga L., Zanichelli A., HAWK, Aberer W., Andrejevic S., Aygoeren-Pürsün E., Banerji A., Bara N.-A., Bas M., Bernstein J., Betschel S., Björkander J., Boccon-Gibod I., Bouillet L., Bova M., Boysen H.H., Branco-Ferreira M., Bygum A., Caballero T., Cancian M., Castaldo A., Christiansen S., Cicardi M., Drouet C., Fabiani J., Gompels M., Gonzalez-Quevedo M.T., Gooi J., Gower R., Gökmen N.M., Grivcheva-Panovska V., Guilarte M., Gülbahar O., Hack E., Hakl R., Harmat G., Jeseňák M., Jolles S., Kaplan A., Katelaris C., Kosnik M., Kőhalmi K.V., Leibovich I., Levi M., Li H., Longhurst H.J., Lumry W., Magerl M., Malbran A., Martin L., Maurer M., Mihály E., Moldovan D., Murdjeva M., Nagy I.B., Nielsen E.W., Nieto S., Nordenfelt P., Obtulowitzc K., Pedrosa M., Porębski G., Prior N., Reshef A., Riedl M.A., Rosenkranz B., Schmid-Grendelmeier P., Péter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Wuillemin W., Xiang Z.Y., Yamamoto B., Zuraw B. (2017)
      Background: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric ...

    • International Consensus on the Use of Genetics in the Management of Hereditary Angioedema 

      Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. (2020)
      Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ...

    • Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine 

      Germenis A.E., Rijavec M., Veronez C.L. (2021)
      Biochemical studies performed during the last decades resulted in the development of various innovative medicinal products for hereditary angioedema (HAE). These therapeutic agents target the production or the function of ...

    • A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency 

      Vatsiou S., Zamanakou M., Loules G., Psarros F., Parsopoulou F., Csuka D., Valerieva A., Staevska M., Porebski G., Obtulowicz K., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2020)
      Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ...

    • On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema 

      Germenis A.E., Loules G., Zamanakou M., Psarros F., González-Quevedo T., Speletas M., Bork K., Wulff K., Steinmüller-Magin L., Brænne I., Staubach-Renz P., Witzke G., Hardt J. (2018)
      [No abstract available]

    • Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency 

      Loules G., Zamanakou M., Parsopoulou F., Vatsiou S., Psarros F., Csuka D., Porebski G., Obtulowicz K., Valerieva A., Staevska M., López-Lera A., López-Trascasa M., Moldovan D., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2018)
      SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection ...