A Case of X-Linked Agammaglobulinemia Presenting with Recurrent Pneumonia and Bronchiectasis





Recurrent pneumonia, Bronchiectasis, X-Linked Agammaglobulinemia


Recurrent infection especially recurrent sinopulmonary tract infection is a typical clinical condition for referral to pediatrician. Patients with recurrent pneumonia should be evaluated for underlying diseases including asthma, congenital heart diseases, gastroesophageal reflux, foreign body aspiration, structure anomalies, cystic fibrosis and immunodeficiency. Our one patient with recurrent pneumonia had hypoglobulinemia, low number of circulating B cell with deficiency of CD19 B cell, absence of tonsils and recurrent pneumonia requiring hospitalization. PCR and sequencing revealed mutation of Bruton tyrosine kinase (Btk) gene on Xq22, suggested that he had X-linked agammaglobulinemia (XLA). The appropriate treatment of XLA was good hygiene care, treatment of infection and prophylactic therapy with intravenous immunoglobulin. This report should alert the pediatrician and general practitioners to consider the diagnosis of primary immunodeficiency diseases. The early diagnosis and proper management can prevent comorbidity diseases and improve quality of patient’s life


Download data is not yet available.

Author Biography

Sirasuda Sommanus, Department of Pediatrics, Taksin Hospital, Bangkok, Thailand

Sommanus S, Kerddonfak S, Kamchaisatian W, Vilaiyuk S, Sasisakulporn C, Teawsomboonkit W, Benjaponpita S. Cow’s milk protein allergy: immunological response in children with cow’s milk protein tolerance. Asian Pac J Allergy Immunol. 2013 June;32(2):171-77.

Sommanus S, Direkwattanachai C, Lawpoolsri S, Sitcharungsi R. Accuracy of childhood asthma control test among Thai childhood asthma patients. Asian Pac J Allergy Immunol. 2018 Sep;36(3):152-58.


Ballow M. Primary immunodeficiency disorders: Antibody deficiency. J Allergy Clin Immunol.2002;109:581-91.

Bruton OC. Agammaglobulinemia. Pediatrics.1952;9:722-7.

Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125:S182-94.

Vihinen M, Kwan SP, Lester T, Ochs HD, Resnick I, Valiaho J, et al. Mutations of the human BTK gene coding for bruton tyrosine kinease in X-linked agammaglobulinemia. Hum Mutat. 1999;13:280-5.

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;22:12(3):100018. https://doi.org/10.1016/j.waojou.2019.100018

Benjasupattananan P, Simasathein T, Vichyanond P, Leungwedchakarn V, Visitsunthorn N, P. Pacharn, et al. Clinical characteristics and outcomes of primary immunodeficiencies in Thai children: An 18-year experience from a tertiary care center. J Clin Immunol. 2009; 29:357–64.

Luecha O, Kamhisatian S, Vilaiyuk S, Manuyakorn W, Sasisakunporn C, Teawsomboonkit W, et al. Primary immunodeficiency diseases; A 20 years experience in a tertiary university hospital at Ramathibodi. J Clin Immunol. 2012;129(2):AB158.

Trakultivakorn M, Ochs HD. X-Linked Agammaglobulinemia in Northern Thailand. Asian Pac J Allergy Immunol. 2006;24:57-63.

Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr. 2002;141:566-71.

Hermaszewski RA, Webster ADB. Primary hypogammaglobulinemia: a survey of clinical manifestations and complications. Quart J Med.1993;86:31-42.

Vaughan D, Katkin JP. Chronic and recurrent pneumonias in children. Semin Respir Infect.2002;17(1):72-84.

Conley ME. B cells in patients with X-linked agammaglobulinemia. J Immunol. 1985;134(5):3070-4.

Parolini O, Heijmancik JF, Allen RC, Belmont JW, Lassiter GL, Henry MJ, et al. Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics. 1993;15(2):342-9.

Cunningham-Rundles C. Intravenous immunoglobulin treatment in the primary immunodeficiency diseases. Immunol Allergy Clin North Am. 1988;8:17-49.




How to Cite

Sommanus, S. (2020). A Case of X-Linked Agammaglobulinemia Presenting with Recurrent Pneumonia and Bronchiectasis. Vajira Medical Journal : Journal of Urban Medicine, 64(5), 365–370. https://doi.org/10.14456/vmj.2020.32



Case Report