Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis
Our study has shown supportive evidence to pursue an early diagnosis of XLA from both a self-reported clinical, health related QoL and parental perspective. The main plea from patients and parents is to achieve an early diagnosis for XLA and severe B-lymphocyte deficiencies with NBS.
Authors
- Bianca Laura Cinicola (ORCID: https://orcid.org/0000-0003-1268-5038)
- Pere Soler‐Palacín (ORCID: https://orcid.org/0000-0002-0346-5570)
- Neslihan Edeer Karaca (ORCID: https://orcid.org/0000-0002-2202-7082)
- Ekaterina Skopovets
- Koen van Aerde (ORCID: https://orcid.org/0000-0003-3315-6282)
- Oksana Boyarchuk (ORCID: https://orcid.org/0000-0002-1234-0040)
- Andrew Richard Gennery (ORCID: https://orcid.org/0000-0002-6218-1324)
- Mahnaz Jamee
- Uwe Wintergerst (ORCID: https://orcid.org/0000-0002-0785-0337)
- Miloš Jeseňák (ORCID: https://orcid.org/0000-0001-7976-2523)
- Virgil A. S. H. Dalm (ORCID: https://orcid.org/0000-0001-5945-4435)
- Maartje Blom (ORCID: https://orcid.org/0000-0002-2993-7847)
- Svetlana Sharapova (ORCID: https://orcid.org/0000-0003-1390-2348)
- Pavlína Králíčková (ORCID: https://orcid.org/0000-0001-6402-3816)
- Markéta Bloomfield (ORCID: https://orcid.org/0000-0001-5330-9341)
- Federica Pulvirenti (ORCID: https://orcid.org/0000-0002-3466-9496)
- Stefano Volpi (ORCID: https://orcid.org/0000-0002-7129-868X)
- Melanie de Gier (ORCID: https://orcid.org/0000-0003-2868-0127)
- Dagmar Berghuis (ORCID: https://orcid.org/0000-0001-9099-8625)
- Andrea Martín‐Nalda (ORCID: https://orcid.org/0000-0002-1715-153X)
- Godelieve J. de Bree (ORCID: https://orcid.org/0000-0001-8869-9570)
- Małgorzata Pac (ORCID: https://orcid.org/0000-0003-2071-3297)
- Clementien Vermont
- Arjan C. Lankester (ORCID: https://orcid.org/0000-0002-6703-2993)
- Silke Tello (ORCID: https://orcid.org/0000-0002-1466-7282)
- Luis Ignacio González‐Granado (ORCID: https://orcid.org/0000-0001-6917-8980)
- Serena Palmeri (ORCID: https://orcid.org/0000-0001-7670-6825)
- Hetty Jolink
- Judith Potjewijd (ORCID: https://orcid.org/0000-0001-9730-9298)
- Peter Čižnár (ORCID: https://orcid.org/0000-0003-0566-1644)
- Adam Klocperk (ORCID: https://orcid.org/0000-0002-1526-4557)
- Benjamin Shillitoe (ORCID: https://orcid.org/0000-0003-4407-5998)
- Helen L. Leavis (ORCID: https://orcid.org/0000-0001-8720-3684)
- J. Merlijn van den Berg (ORCID: https://orcid.org/0000-0003-3026-2784)
- Mirjam van der Burg
- C Mukherjee
- Hassan Abolhassani
- Stefanie Henriet
- Annelotte J. Duintjer (ORCID: https://orcid.org/0009-0003-6888-9694)
Institutions
- Utrecht University (NL)
- Charles University (CZ)
- Leiden University Medical Center (NL)
- Maastricht University Medical Centre (NL)
- Policlinico Umberto I (IT)
- Worcestershire Acute Hospitals NHS Trust (GB)
- Istituto Giannina Gaslini (IT)
- Erasmus MC (NL)
- Karolinska Institutet (SE)
- University Medical Center Utrecht (NL)
- Maastricht University (NL)
- Ege University (TR)
- Research Institute Hospital 12 de Octubre (ES)
- Netherlands Center for Occupational Diseases (NL)
- Emma Kinderziekenhuis (NL)
- Children's Medical Center (IR)
- Amalia Kinderziekenhuis (NL)
- Children's Memorial Health Institute (PL)
- Sheffield Children's NHS Foundation Trust (GB)
- Vall d'Hebron Hospital Universitari (ES)
- Willem-Alexander Kinderziekenhuis (NL)
- University Hospital Hradec Králové (CZ)
- Great North Children's Hospital (GB)
- St. Josef-Hospital (DE)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Belarusian Research Center For Pediatric Oncology and Hematology (BY)
- Public Health Service of Amsterdam (NL)
- I.Horbachevsky Ternopil National Medical University (UA)
- Martin University Hospital (SK)
- Tehran University of Medical Sciences (IR)
- Comenius University Bratislava (SK)
- University of Genoa (IT)
- Newcastle University (GB)
- Sapienza University of Rome (IT)
- University of Amsterdam (NL)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-08-25
- DOI
- https://doi.org/10.1007/s10875-025-01904-z
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Jeffrey Modell Foundation
- European Commission
- ZonMw
- Austrian Science Fund
- European Academy of Allergy and Clinical Immunology
- European Federation of Immunological Societies
- Takeda Pharmaceuticals International
- Instituto de Salud Carlos III