1 - Unidade de Imunodeficiências Primárias, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central,
- 18th Biennial Meeting of The European Society for Immunodeficiencies (E-Poster)
Resumo:
Background and Aims: XLA (X-linked agammaglobulinemia) is caused by mutation in the btk gene, leading to the absence of B-cells, resulting in antibody deficiency and recurrent infections. IRT (immunoglobulin replacement therapy) has led to an overall good prognosis, with most patients having a normal lifespan. The exceptions are patients with chronic meningitis (usually caused by Enterovirus).
Case Report: We report a 17-month-old boy with recurrent acute otitis media that presented with fever, vomiting, prostration, somnolence, loss of strength and ataxia. Initial CSF analysis was compatible with aseptic meningoencephalitis, with pleocytosis (100cells/mm³) and high CSF protein (63.8mg/dL). Cultural exam and PCR for bacteria and virus in the CSF were negative. MRI showed a discrete mesencephalic leptomeningeal thickening. The patient was treated with ceftriaxone and acyclovir for 14 days, without improvement. XLA was diagnosed (1558C>T), and the antibiotics switched to ciprofloxacin and meropenem for 3 weeks. He received high-dose intravenous immunoglobulin (IVIG) infusions to maintain IgG trough levels above 20 g/L. No pathogen was identified, despite multiple CSF collections and metagenomic NGS for pathogen detection. Three months after the diagnosis, the CSF still had pleocytosis and elevated proteins and HSCT was discussed. Interestingly, the patient’s clinical condition improved over the following two months (while on high dose IgIV), the CSF normalized and the indication for HSCT withdrawn.
Conclusion: HSCT is not considered an appropriate therapeutic option for most cases of XLA, but in the presence of an active, untreatable CNS infection, it has been successfully performed (if undertaken before irreversible CNS damage).
Palavras Chave: HSCT; XLA