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

Maartje Blom; Annelotte J Duintjer; Mahnaz Jamee; Melanie de Gier; Markéta Bloomfield; Adam Klocperk; Pavlina Kralickova; Neslihan E Karaca; Oksana Boyarchuk; Peter Čižnár; Miloš Jeseňák; Svetlana Sharapova; Ekaterina Skopovets; Luis I Gonzalez-Granado; Serena Palmeri; Stefano Volpi; Andrea Martin Nalda; Sonia Rodriguez Tello; Pere Soler Palacín; Hassan Abolhassani; Federica Pulvirenti; Bianca Cinicola; Uwe Wintergerst; Godelieve J de Bree; J Merlijn van den Berg; Helen L Leavis; Clementien Vermont; Virgil A S H Dalm; Koen van Aerde; Stefanie Henriet; Hetty Jolink; Judith Potjewijd; Arjan Lankester; Chandoshi Rhea Mukherjee; Dagmar Berghuis; Małgorzata Pac; Benjamin M J Shillitoe; Andrew R Gennery; Mirjam van der Burg

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^*, Annelotte J Duintjer, Mahnaz Jamee, Melanie de Gier, Markéta Bloomfield, Adam Klocperk, Pavlina Kralickova, Neslihan E Karaca, Oksana Boyarchuk, Peter Čižnár, Miloš Jeseňák, Svetlana Sharapova, Ekaterina Skopovets, Luis I Gonzalez-Granado, Serena Palmeri, Stefano Volpi, Andrea Martin Nalda, Sonia Rodriguez Tello, Pere Soler Palacín, Hassan AbolhassaniFederica Pulvirenti, Bianca Cinicola, Uwe Wintergerst, Godelieve J de Bree, J Merlijn van den Berg, Helen L Leavis, Clementien Vermont, Virgil A S H Dalm, Koen van Aerde, Stefanie Henriet, Hetty Jolink, Judith Potjewijd, Arjan Lankester, Chandoshi Rhea Mukherjee, Dagmar Berghuis, Małgorzata Pac, Benjamin M J Shillitoe, Andrew R Gennery, Mirjam van der Burg

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	125
Journal	Journal of Clinical Immunology
Volume	45
Issue number	1
DOIs	https://doi.org/10.1007/s10875-025-01904-z
Publication status	Published - 25 Aug 2025

Access to Document

10.1007/s10875-025-01904-zLicence: CC BY

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early DiagnosisFinal published version, 1.14 MBLicence: CC BY

Cite this

Blom, M., Duintjer, A. J., Jamee, M., de Gier, M., Bloomfield, M., Klocperk, A., Kralickova, P., Karaca, N. E., Boyarchuk, O., Čižnár, P., Jeseňák, M., Sharapova, S., Skopovets, E., Gonzalez-Granado, L. I., Palmeri, S., Volpi, S., Nalda, A. M., Tello, S. R., Palacín, P. S., ... van der Burg, M. (2025). Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis. Journal of Clinical Immunology, 45(1), Article 125. https://doi.org/10.1007/s10875-025-01904-z

@article{b36f0f1fc4904d45b72c10a9deee2f69,

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

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.",

author = "Maartje Blom and Duintjer, \{Annelotte J\} and Mahnaz Jamee and \{de Gier\}, Melanie and Mark{\'e}ta Bloomfield and Adam Klocperk and Pavlina Kralickova and Karaca, \{Neslihan E\} and Oksana Boyarchuk and Peter {\v C}i{\v z}n{\'a}r and Milo{\v s} Jese{\v n}{\'a}k and Svetlana Sharapova and Ekaterina Skopovets and Gonzalez-Granado, \{Luis I\} and Serena Palmeri and Stefano Volpi and Nalda, \{Andrea Martin\} and Tello, \{Sonia Rodriguez\} and Palac{\'i}n, \{Pere Soler\} and Hassan Abolhassani and Federica Pulvirenti and Bianca Cinicola and Uwe Wintergerst and \{de Bree\}, \{Godelieve J\} and \{van den Berg\}, \{J Merlijn\} and Leavis, \{Helen L\} and Clementien Vermont and Dalm, \{Virgil A S H\} and \{van Aerde\}, Koen and Stefanie Henriet and Hetty Jolink and Judith Potjewijd and Arjan Lankester and Mukherjee, \{Chandoshi Rhea\} and Dagmar Berghuis and Ma{\l}gorzata Pac and Shillitoe, \{Benjamin M J\} and Gennery, \{Andrew R\} and \{van der Burg\}, Mirjam",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2025.",

year = "2025",

month = aug,

day = "25",

doi = "10.1007/s10875-025-01904-z",

language = "English",

volume = "45",

journal = "Journal of Clinical Immunology",

issn = "0271-9142",

publisher = "Springer New York",

number = "1",

}

Blom, M, Duintjer, AJ, Jamee, M, de Gier, M, Bloomfield, M, Klocperk, A, Kralickova, P, Karaca, NE, Boyarchuk, O, Čižnár, P, Jeseňák, M, Sharapova, S, Skopovets, E, Gonzalez-Granado, LI, Palmeri, S, Volpi, S, Nalda, AM, Tello, SR, Palacín, PS, Abolhassani, H, Pulvirenti, F, Cinicola, B, Wintergerst, U, de Bree, GJ, van den Berg, JM, Leavis, HL, Vermont, C, Dalm, VASH, van Aerde, K, Henriet, S, Jolink, H, Potjewijd, J, Lankester, A, Mukherjee, CR, Berghuis, D, Pac, M, Shillitoe, BMJ, Gennery, AR & van der Burg, M 2025, 'Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis', Journal of Clinical Immunology, vol. 45, no. 1, 125. https://doi.org/10.1007/s10875-025-01904-z

TY - JOUR

T1 - Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia

T2 - the Importance of an Early Diagnosis

AU - Blom, Maartje

AU - Duintjer, Annelotte J

AU - Jamee, Mahnaz

AU - de Gier, Melanie

AU - Bloomfield, Markéta

AU - Klocperk, Adam

AU - Kralickova, Pavlina

AU - Karaca, Neslihan E

AU - Boyarchuk, Oksana

AU - Čižnár, Peter

AU - Jeseňák, Miloš

AU - Sharapova, Svetlana

AU - Skopovets, Ekaterina

AU - Gonzalez-Granado, Luis I

AU - Palmeri, Serena

AU - Volpi, Stefano

AU - Nalda, Andrea Martin

AU - Tello, Sonia Rodriguez

AU - Palacín, Pere Soler

AU - Abolhassani, Hassan

AU - Pulvirenti, Federica

AU - Cinicola, Bianca

AU - Wintergerst, Uwe

AU - de Bree, Godelieve J

AU - van den Berg, J Merlijn

AU - Leavis, Helen L

AU - Vermont, Clementien

AU - Dalm, Virgil A S H

AU - van Aerde, Koen

AU - Henriet, Stefanie

AU - Jolink, Hetty

AU - Potjewijd, Judith

AU - Lankester, Arjan

AU - Mukherjee, Chandoshi Rhea

AU - Berghuis, Dagmar

AU - Pac, Małgorzata

AU - Shillitoe, Benjamin M J

AU - Gennery, Andrew R

AU - van der Burg, Mirjam

PY - 2025/8/25

Y1 - 2025/8/25

N2 - 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.

AB - 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.

U2 - 10.1007/s10875-025-01904-z

DO - 10.1007/s10875-025-01904-z

M3 - Article

C2 - 40853601

SN - 0271-9142

VL - 45

JO - Journal of Clinical Immunology

JF - Journal of Clinical Immunology

IS - 1

M1 - 125

ER -

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

Abstract

Access to Document

Fingerprint

Cite this