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Colegio de Medicina Interna de México.

2021, Number 5

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Med Int Mex 2021; 37 (5)

X-linked agammaglobulinemia: diagnosis at adulthood

Ibarra-Stone KA, Segura-Méndez NH, Anda-Garay JC, O’Farrill-Romanillos PM, Herrera-Sánchez DA

Language: Spanish
References: 12
Page: 896-901
PDF size: 237.77 Kb.


ABSTRACT

Background: X-linked agammaglobulinemia (XLA) is a primary humoral recessive immunodeficiency linked to the X chromosome, caused by a mutation of a transduction molecule called Bruton tyrosine kinase. Symptoms usually start on 3 to 18 months male individuals, with an enhanced susceptibility to encapsulated bacteria and enteroviruses due to a diminished function on B cells and subsequent immunoglobulin deficiency.
Clinical case: A 28-year-old male patient with a first-degree family member diagnosed with XLA. Symptoms started at the age of 5 years, with upper respiratory tract infections attending multiple consults till the age of 21 without diagnosis. He was admitted to our unit with a diagnosis of community-acquired pneumonia, during hospitalization the diagnosis of XLA was established. Even after optimal immunoglobulin replacement treatment irreversible lung damage was already done due to late diagnosis.
Conclusiones: Most of the deaths due to XLA can be prevented with an early diagnosis and prior to the development of irreversible lung damage life expectancy is similar in this group as for general population.


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