De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency

Authors: Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Mar Guilarte, Roger Colobran

Source: Frontiers in Immunology, Vol 16 (2025)

Subject Terms: hereditary angioedema, C1 inhibitor deficiency, SERPING1, somatic variant, gonosomal mosaicism, genetic counseling, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2025.1550380/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/8a6747e58521469fb40b1a7f6f171b0e

Unmet needs in the management of hereditary angioedema from the perspective of Brazilian patients

Authors: Pedro Giavina-Bianchi, MD, PhD, Mara Giavina-Bianchi, MD, PhD, Raquel de Oliveira Martins, Maria Cristina Fortunato, PharmD, Ana Claudia Guersoni, MD, PhD

Source: World Allergy Organization Journal, Vol 17, Iss 11, Pp 100992- (2024)

Subject Terms: Hereditary angioedema, C1 inhibitor deficiency, Morbidity and mortality, Self-report questionnaire, Unmet needs, Quality of life. angioedemas, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1939455124001248; https://doaj.org/toc/1939-4551

Access URL: https://doaj.org/article/7c12c4ad8813488285d0bfa0b03cd072

Navigating the swells: A case report of hereditary angioedema

Authors: Kamlesh Taori, Vijendra Kirnake, Parmeshwar Junare, Vishal Padwale

Source: Journal of Family Medicine and Primary Care, Vol 13, Iss 7, Pp 2784-2786 (2024)

Subject Terms: c1 inhibitor deficiency, hereditary angioedema, recurrent angioedema, Medicine

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/jfmpc.jfmpc_1254_23; https://doaj.org/toc/2249-4863; https://doaj.org/toc/2278-7135

Access URL: https://doaj.org/article/bd94b269b3854fc08cd977f30ec336e8

Abdominal attack in a patient with hereditary angioedema due to C1 inhibitor deficiency complicated by a perforated peptic ulcer

Authors: Piotr Obtulowicz, Marcin Stobiecki, Wojciech Dyga, Tadeusz Popiela, Krystyna Obtulowicz

Source: Alergologia Polska, Vol 11, Iss 1, Pp 80-83 (2024)

Subject Terms: abdominal imaging, hereditary angioedema, c1 inhibitor deficiency, angioedema, Medicine

File Description: electronic resource

Relation: https://www.termedia.pl/Abdominal-attack-in-a-patient-with-hereditary-angioedema-due-to-C1-inhibitor-deficiency-complicated-by-a-perforated-peptic-ulcer,123,52432,1,1.html; https://doaj.org/toc/2353-3854; https://doaj.org/toc/2391-6052

Access URL: https://doaj.org/article/db431d3869974e5c8688dfd519e47261

Mast cell degranulation and bradykinin-induced angioedema - searching for the missing link

Authors: Grzegorz Porebski, Alicja Dziadowiec, Hubert Rybka, Radoslaw Kitel, Mateusz Kwitniewski

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: bradykinin, C1 inhibitor deficiency, HAE, hereditary angioedema, mast cell, MRGPRX2, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1399459/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/fa2e6dc15b544ec68200b87b566e0cfd

Hereditary angioedema classification: Expanding knowledge by genotyping and endotyping

Authors: Pedro Giavina-Bianchi, MD, PhD, Marcelo Vivolo Aun, MD, PhD, Mara Giavina-Bianchi, MD, PhD, Ana Júlia Ribeiro, MD, Rosana Camara Agondi, MD, PhD, Antônio Abílio Motta, MD, PhD, Jorge Kalil, MD, PhD

Source: World Allergy Organization Journal, Vol 17, Iss 5, Pp 100906- (2024)

Subject Terms: Hereditary angioedema, C1 inhibitor deficiency, Classification, Endotype, Phenotype, Disease awareness, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1939455124000371; https://doaj.org/toc/1939-4551

Access URL: https://doaj.org/article/22c01f5227bb4348881b6de3b94db85f

A multicenter chart review of patient characteristics, treatment, and outcomes in hereditary angioedema: unmet need for more effective long-term prophylaxis

Authors: Joan Mendivil, Maral DerSarkissian, Aleena Banerji, Lavanya Diwakar, Constance H. Katelaris, Paul K. Keith, Harold Kim, Gina Lacuesta, Markus Magerl, Charlotte Slade, William B. Smith, Zia Choudhry, Angela Simon, Sujata P. Sarda, Paula J. Busse

Source: Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-13 (2023)

Subject Terms: Hereditary angioedema, C1 inhibitor deficiency, Long-term prophylaxis, On-demand treatment, Androgens, Retrospective chart review, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/78d076dcf6d34c9999fa3966bc528fe7

Clinical Characteristics and Quality of Life in a Cohort of Polish Pediatric Patients with Hereditary Angioedema

Authors: Katarzyna Piotrowicz-Wójcik, Malgorzata Bulanda, Ewa Czarnobilska, Grzegorz Porebski

Source: Children, Vol 11, Iss 2, p 237 (2024)

Subject Terms: hereditary angioedema, HAE, children, C1 inhibitor deficiency, quality of life, pediatric population, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/2/237; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/74696041227d45fd9cb5136fca6cf72c

Clinical features of hereditary angioedema and warning signs (H4AE) for its identification

Authors: Giavina-Bianchi, Pedro, Aun, Marcelo Vivolo, Garcia, Juliana Fóes Bianchini, Gomes, Laís Souza, Ribeiro, Ana Júlia, Takejima, Priscila, Agondi, Rosana Câmara, Kalil, Jorge, Motta, Antonio Abilio

Source: Clinics. January 2022 77

Subject Terms: Hereditary angioedema, C1 inhibitor deficiency, Warning signs, Laryngeal angioedema, Abdominal pain, Acronym

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322022000100214

Editorial: C1 inhibitor deficiency and angioedema

Authors: Henriette Farkas, Anastasios E. Germenis, Hilary Longhurst

Source: Frontiers in Allergy, Vol 3 (2022)

Subject Terms: hereditary angioedema (HAE), C1 inhibitor deficiency, bradykinin, SERPING1 gene, plasma-derived C1-inhibitor, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/falgy.2022.1065400/full; https://doaj.org/toc/2673-6101

Access URL: https://doaj.org/article/30648008588d4d40880b0cc7dcc217a8

Psychological processes in the experience of hereditary angioedema in adult patients: an observational study

Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro, Maria Francesca Freda

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

Subject Terms: Hereditary angioedema, Psychological processes, Stress, C1 inhibitor, C1 inhibitor deficiency, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/e1619129abdb456388abe77d81dab097

Clinical features of hereditary angioedema and warning signs (H4AE) for its identification

Authors: Pedro Giavina-Bianchi, Marcelo Vivolo Aun, Juliana Fóes Bianchini Garcia, Laís Souza Gomes, Ana Júlia Ribeiro, Priscila Takejima, Rosana Câmara Agondi, Jorge Kalil, Antonio Abilio Motta

Source: Clinics, Vol 77 (2022)

Subject Terms: Hereditary angioedema, C1 inhibitor deficiency, Warning signs, Laryngeal angioedema, Abdominal pain, Acronym, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322022000100214&tlng=en; https://doaj.org/toc/1980-5322

Access URL: https://doaj.org/article/65d114a8765a41e0b68f9e568de7f497

Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency

Authors: Gábos Gabriella, Moldovan Dumitru, Dobru Daniela, Mihály Enikő, Bara Noémi, Nădășan Valentin, Hutanu Adina, Csép Katalin

Source: Romanian Journal of Laboratory Medicine, Vol 27, Iss 3, Pp 255-267 (2019)

Subject Terms: hereditary angioedema, c1 inhibitor deficiency, serping1, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2284-5623

Access URL: https://doaj.org/article/d7482aa23eae498086d951f1872d22f1

Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency

Authors: Bernadett Márkus, Nóra Veszeli, György Temesszentandrási, Henriette Farkas, László Kalabay

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)

Subject Terms: Fetuin-A, Tumor necrosis factor alpha, C-reactive protein, Hereditary angioedema, C1 inhibitor deficiency, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-0995-7; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d94b3dc64df4488da27f5855637816c5

Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen

Authors: Polliana Mihaela Leru, Vlad Florin Anton, Horia Bumbea

Source: Allergy, Asthma & Clinical Immunology, Vol 14, Iss 1, Pp 1-5 (2018)

Subject Terms: Acquired angioedema, Attenuated androgens, C1 inhibitor deficiency, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13223-018-0274-5; https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/03f5413c7dc94b5bb356323c109e21ab

Case report presenting the diagnostic challenges in a patient with recurrent acquired angioedema, antiphospholipid antibodies and undetectable C2 levels

Authors: Arturo J. Bonnin, Charles DeBrosse, Terri Moncrief, G. Wendell Richmond

Source: Allergy, Asthma & Clinical Immunology, Vol 14, Iss 1, Pp 1-7 (2018)

Subject Terms: Acquired angioedema, Antiphospholipid antibody syndrome, C1 inhibitor deficiency, C2 deficiency, Lymphoma, Rituximab, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13223-018-0246-9; https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/290fffa79c0c4182961342f5b2eaffd8

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis

Authors: Giavina-Bianchi, Pedro, Arruda, Luisa Karla, Aun, Marcelo V., Campos, Regis A., Chong-Neto, Herberto J., Constantino-Silva, Rosemeire N., Fernandes, Fátima R., Ferraro, Maria F., Ferriani, Mariana P.L., França, Alfeu T., Fusaro, Gustavo, Garcia, Juliana F.B., Komninakis, Shirley, Maia, Luana S.M., Mansour, Eli, Moreno, Adriana S., Motta, Antonio A., Pesquero, João B., Portilho, Nathalia, Rosário, Nelson A., Serpa, Faradiba S., Solé, Dirceu, Takejima, Priscila, Toledo, Eliana, Valle, Solange O.R., Veronez, Camila L., Grumach, Anete S.

Source: Clinics. January 2018 73

Subject Terms: Hereditary Angioedema, Angioedema, C1 Inhibitor Deficiency, Coagulation Factor XII Mutations, Management, Guidelines

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322018000100303

A Patient with Asymptomatic Connective Tissue Disease Coursing with Angioedema

Authors: Feridun Gürlek, Eyyüp Taşdemir

Source: İstanbul Medical Journal, Vol 18, Iss 2, Pp 94-96 (2017)

Subject Terms: Antinuclear antibody, angioedema, C1 inhibitor deficiency, Medicine

File Description: electronic resource

Relation: http://imj.galenos.com.tr/archives/archive-detail/article-preview/a-patient-with-asymptomatic-connective-tissue-dise/20466; https://doaj.org/toc/2619-9793; https://doaj.org/toc/2148-094X

Access URL: https://doaj.org/article/c01adf6231534135bad8a8fcf4d7f692

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema

Authors: Camila Lopes Veronez, Anne Aabom, Renan Paulo Martin, Rafael Filippelli-Silva, Rozana Fátima Gonçalves, Priscila Nicolicht, Agatha Ribeiro Mendes, Jane Da Silva, Mar Guilarte, Anete Sevciovic Grumach, Eli Mansour, Anette Bygum, João Bosco Pesquero

Source: Frontiers in Medicine, Vol 6 (2019)

Subject Terms: hereditary angioedema, Kallikrein-Kinin System, genetic variation, genotype-phenotype correlation, C1 inhibitor deficiency, F12 mutation, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fmed.2019.00028/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/11f2c8ef89a14a6c8e850219d5e9c290

Comparing Pathways of Bradykinin Formation in Whole Blood From Healthy Volunteers and Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency

Authors: Xavier Charest-Morin, Jacques Hébert, Georges-Étienne Rivard, Arnaud Bonnefoy, Eric Wagner, François Marceau

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: B2 receptors, bradykinin, hereditary angioedema with C1 inhibitor deficiency, kallikreins, tissue plasminogen activator, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.02183/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/c0af245679fb483dbf183713e87f04e9