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Multicenter Study
. 2025 Aug 25;45(1):125.
doi: 10.1007/s10875-025-01904-z.

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

Maartje Blom  1 , Annelotte J Duintjer  2 , Mahnaz Jamee  2 , Melanie de Gier  2 , Markéta Bloomfield  3 , Adam Klocperk  3 , Pavlina Kralickova  4 , Neslihan E Karaca  5 , Oksana Boyarchuk  6 , Peter Čižnár  7 , Miloš Jeseňák  8 , Svetlana Sharapova  9 , Ekaterina Skopovets  9 , Luis I Gonzalez-Granado  10 , Serena Palmeri  11   12 , Stefano Volpi  11   12 , Andrea Martin Nalda  13 , Sonia Rodriguez Tello  13 , Pere Soler Palacín  13 , Hassan Abolhassani  14   15 , Federica Pulvirenti  16 , Bianca Cinicola  17   18 , Uwe Wintergerst  19 , Godelieve J de Bree  20 , J Merlijn van den Berg  21 , Helen L Leavis  22 , Clementien Vermont  23 , Virgil A S H Dalm  24 , Koen van Aerde  25 , Stefanie Henriet  25 , Hetty Jolink  26 , Judith Potjewijd  27 , Arjan Lankester  28 , Chandoshi Rhea Mukherjee  29 , Dagmar Berghuis  28 , Małgorzata Pac  30 , Benjamin M J Shillitoe  31 , Andrew R Gennery  32   33 , Mirjam van der Burg  2
Affiliations
Multicenter Study

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

Maartje Blom et al. J Clin Immunol. .

Abstract

Purpose: Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening (NBS). Our international multicenter survey study aimed to evaluate self-reported outcomes and parental perspectives in XLA patients to determine whether an early diagnosis is associated with better quality of life (QoL).

Methods: QoL-questionnaires included the PedsQL for children and SF-36, CVID_QOL, PADQOL-16 for adults. A new questionnaire was specifically developed for parents about an early diagnosis of XLA.

Results: In total, 88 adult and 65 pediatric XLA patients, and 69 parents from 14 countries completed the survey. Patients with an early diagnosis reported less severe, recurrent infections and less hospitalization (p < 0.05). QoL was significantly lower in multiple health domains for pediatric and adult patients with a late diagnosis compared to the general population. Patients with an early diagnosis reported similar QoL outcomes compared to the general population. Parents showed immense support for NBS for XLA stating that an early diagnosis prevents emotional insecurity, health damage, unnecessary diagnostics and allows early access to medical care and informed family planning.

Conclusion: 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.

Keywords: B-lymphocyte deficiencies - BTK; IEI; Inborn errors of immunity; KREC; Newborn screening; QoL; Quality of life; X-linked agammaglobulinemia; XLA.

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Conflict of interest statement

Declarations. Competing Interests: The authors declare no competing interests. Ethics Approval: This is a questionnaire study, participation was voluntary and returning the completed questionnaire implied consent. All data was analyzed anonymously. The study was approved by the Medical Ethics Committee of Leiden-Den Haag-Delft (LDD) (reference: N22.018).

Figures

Fig. 1
Fig. 1
Overview of the participating countries (N = 14). The number of completed questionnaires, both adult patients (N = 88), pediatric patients (N = 65) and parents (N = 69) is indicated per country
See this image and copyright information in PMC

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