Abstract
X-linked agammaglobulinemia (XLA) should be suspected in a young boy with recurrent respiratory infections or invasive bacterial infections, very low or undetectable immunoglobulin serum levels and very low or absent CD19+ B cells.
XLA is due to defects in a signal transduction molecule called Btk, leading to intramedullary block of B-cell differentiation.
Molecular study to identify the mutation in the BTK gene is recommended to confirm the diagnosis.
Immunoglobulin replacement therapy is the cornerstone of treatment for XLA, together with prompt antibiotic treatment of the infections. Gene therapy remains a more distant goal.
XLA patients are essentially males, while females may be healthy carriers. De novo mutations are relatively frequent (~60%)
Despite immunoglobulin replacement therapy, respiratory tract infections remains the most prominent clinical problem and chronic lung disease is a major complication of XLA
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, Cazzola G, Consolini R, De Mattia D, Dell’Erba G, Duse M, Fiorini M, Martino S, Martire B, Masi M, Monafo V, Moschese V, Notarangelo LD, Orlandi P, Panei P, Pession A, Pietrogrande MC, Pignata C, Quinti I, Ragno V, Rossi P, Sciotto A, Stabile A, Italian Pediatric Group for X-A. 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.
Gathmann B, Grimbacher B, Beaute J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G, Party ERW. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157(Suppl 1):3–11.
Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CI, Bentley DR. The gene involved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. 1993. J Immunol. 2012;188(7):2948–55.
Rezaei N, Aghamohammadi A, Notarangelo LD. Primary immunodeficiency diseases: definition, diagnosis, and management. Berlin/Heidelberg: Springer; 2017.
Shillitoe B, Gennery A. X-Linked agammaglobulinaemia: outcomes in the modern era. Clin Immunol. 2017;183:54–62.
Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine. 2006;85(4):193–202.
Quartier P, Debre M, De Blic J, de Sauverzac R, Sayegh N, Jabado N, Haddad E, Blanche S, Casanova JL, Smith CI, Le Deist F, de Saint Basile G, Fischer A. Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. J Pediatr. 1999;134(5):589–96.
Liese JG, Wintergerst U, Tympner KD, Belohradsky BH. High- vs low-dose immunoglobulin therapy in the long-term treatment of X-linked agammaglobulinemia. Am J Dis Child. 1992;146(3):335–9.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Pulvirenti, F., Quinti, I. (2019). Fever and Sleepiness. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_4
Download citation
DOI: https://doi.org/10.1007/978-3-030-21262-9_4
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21261-2
Online ISBN: 978-3-030-21262-9
eBook Packages: MedicineMedicine (R0)