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

Lackey AE, Ahmad F. X-Linked Agammaglobulinemia. 2023 Jul 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.

Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72(2):279–90.

CAS  PubMed  Google Scholar 

Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. Nature. 1993;361(6409):226–33.

CAS  PubMed  Google Scholar 

Cardenas-Morales M, Hernandez-Trujillo VP. Agammaglobulinemia: from X-linked to autosomal forms of disease. Clin Rev Allergy Immunol. 2022;63(1):22–35.

PubMed  Google Scholar 

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508–20.

PubMed  Google Scholar 

Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol. 2000;19(2):183–204.

CAS  PubMed  Google Scholar 

Morosky S, Wells AI, Lemon K, Evans AS, Schamus S, Bakkenist CJ, et al. The neonatal Fc receptor is a pan-echovirus receptor. Proc Natl Acad Sci U S A. 2019;116(9):3758–63.

CAS  PubMed  PubMed Central  Google Scholar 

Moschese V, Martire B, Soresina A, Chini L, Graziani S, Monteferrario E, et al. Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian primary immunodeficiency network centers (IPINet) and review of the literature. J Biol Regul Homeost Agents. 2013;27(4):935–46.

CAS  PubMed  Google Scholar 

Shillitoe BMJ, Gennery AR. An update on X-Linked agammaglobulinaemia: clinical manifestations and management. Curr Opin Allergy Clin Immunol. 2019;19(6):571–7.

CAS  PubMed  Google Scholar 

Abolhassani H, Hirbod-Mobarakeh A, Shahinpour S, Panahi M, Mohammadinejad P, Mirminachi B, et al. Mortality and morbidity in patients with X-linked agammaglobulinaemia. Allergol Immunopathol (Madr). 2015;43(1):62–6.

CAS  PubMed  Google Scholar 

Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, et al. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality. J Allergy Clin Immunol. 2020;146(2):429–37.

CAS  PubMed  Google Scholar 

El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, et al. X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019;12(3):100018.

CAS  PubMed  PubMed Central  Google Scholar 

Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, et al. ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol. 2014;34(4):398–424.

CAS  PubMed  Google Scholar 

Chun JK, Lee TJ, Song JW, Linton JA, Kim DS. Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at severance hospital. Yonsei Med J. 2008;49(1):28–36.

CAS  PubMed  PubMed Central  Google Scholar 

O’Toole D, Groth D, Wright H, Bonilla FA, Fuleihan RL, Cunningham-Rundles C, et al. X-Linked agammaglobulinemia: infection frequency and infection-Related mortality in the USIDNET registry. J Clin Immunol. 2022;42(4):827–36.

PubMed  PubMed Central  Google Scholar 

Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002;104(3):221–30.

CAS  PubMed  Google Scholar 

Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-Linked agammaglobulinemia: report on a united States registry of 201 patients. Medicine. 2006;85(4):193–202.

PubMed  Google Scholar 

Hernandez-Trujillo V, Zhou C, Scalchunes C, Ochs HD, Sullivan KE, Cunningham-Rundles C, et al. A registry study of 240 patients with X-Linked agammaglobulinemia living in the USA. J Clin Immunol. 2023;43(6):1468–77.

CAS  PubMed  PubMed Central  Google Scholar 

Nishimura A, Uppuluri R, Raj R, Swaminathan VV, Cheng Y, Abu-Arja RF, et al. An international survey of allogeneic hematopoietic cell transplantation for X-Linked agammaglobulinemia. J Clin Immunol. 2023;43(8):1827–39.

CAS  PubMed  Google Scholar 

Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, et al. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis. Blood. 2022;139(13):2066–79.

CAS  PubMed  Google Scholar 

Lankester AC, Neven B, Mahlaoui N, von Asmuth EGJ, Courteille V, Alligon M, et al. Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006–2014 European cohort. J Allergy Clin Immunol. 2022;149(5):1744–e548.

CAS  PubMed  Google Scholar 

Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, et al. Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults. Blood. 2020;136(10):1201–11.

PubMed  Google Scholar 

Bryan BA, Battersby A, Shillitoe BM, Barge D, Bourne H, Flood T, et al. Respiratory health and related quality of life in patients with congenital agammaglobulinemia in the Northern region of the UK. J Clin Immunol. 2016;36(5):472–9.

PubMed  PubMed Central  Google Scholar 

Altman K, Zhou C, Hernandez-Trujillo V, Scalchunes C, Rawlings DJ, de la Morena MT. Health-Related quality of life in 91 patients with X-Linked agammaglobulinemia. J Clin Immunol. 2022;42(4):811–8.

CAS  PubMed  Google Scholar 

Winkelstein JA, Conley ME, James C, Howard V, Boyle J. Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes. Med (Baltim). 2008;87(5):253–8.

Google Scholar 

Howard V, Greene JM, Pahwa S, Winkelstein JA, Boyle JM, Kocak M, et al. The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol. 2006;118(2–3):201–8.

CAS  PubMed  Google Scholar 

Borte S, von Döbeln U, Fasth A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119(11):2552–5.

CAS  PubMed  Google Scholar 

van Zelm MC, van der Burg M, Langerak AW, van Dongen JJ. PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol. 2011;2:12.

PubMed  PubMed Central  Google Scholar 

Kelleher KJ, Gardner W, Kemper AR, Chavez L, Pajer K, Rosic T. Principles for primary care screening in the context of population health. Acad Pediatr. 2024. https://doi.org/10.1016/j.acap.2024.02.015.

Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800–12.

CAS  PubMed  Google Scholar 

Quinti I, Pulvirenti F, Giannantoni P, Hajjar J, Canter DL, Milito C, et al. Development and initial validation of a questionnaire to measure Health-Related quality of life of adults with common variable immune deficiency: the cvid_qol questionnaire. J Allergy Clin Immunol Pract. 2016;4(6):1169–e794.

PubMed  Google Scholar 

Andersen JB, Midttun K, Feragen KJB. Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL). J Patient Rep Outcomes. 2019;3(1):15.

PubMed  PubMed Central  Google Scholar 

Ballow M, Conaway MR, Sriaroon P, Rachid RA, Seeborg FO, Duff CM et al. Construction and validation of a novel disease-specific quality-of-life instrument for patients with primary antibody deficiency disease (PADQOL-16). J Allergy Clin Immunol. 2017;139(6):2007-10.e8.

Ware JE Jr., Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30(6):473–83.

PubMed  Google Scholar 

Carrillo-Tapia E, García-García E, Herrera-González NE, Yamazaki-Nakashimada MA, Staines-Boone AT, Segura-Mendez NH, et al. Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. Expert Rev Clin Immunol. 2018;14(1):83–93.

CAS  PubMed  Google Scholar 

Chen XF, Wang WF, Zhang YD, Zhao W, Wu J, Chen TX. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: report from shanghai, China (2000–2015). Med (Baltim). 2016;95(32):e4544.

Google Scholar 

El-Sayed ZA, Radwan N. Newborn screening for primary immunodeficiencies: the gaps, challenges, and outlook for developing countries. Front Immunol. 2019;10:2987.

CAS  PubMed  Google Scholar 

Titman P, Allwood Z, Gilmour C, Malcolmson C, Duran-Persson C, Cale C, et al. Quality of life in children with primary antibody deficiency. J Clin Immunol. 2014;34(7):844–52.

CAS  PubMed  PubMed Central  Google Scholar 

Soresina A, Nacinovich R, Bomba M, Cassani M, Molinaro A, Sciotto A, et al. The quality of life of children and adolescents with X-linked agammaglobulinemia. J Clin Immunol. 2009;29(4):501–7.

PubMed  Google Scholar 

Berg AK, Diseth TH, Abrahamsen TG, Halvorsen K, Reinfjell T, Erichsen HC. Primary antibody deficienc

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