Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.
Antibody deficiency
Aspergillus pneumonia
CNS aspergillosis
Fungal infection
Hydrocephalus
Ring-enhancing lesions
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
15 Oct 2024
15 Oct 2024
Historique:
received:
05
04
2024
accepted:
26
09
2024
medline:
15
10
2024
pubmed:
15
10
2024
entrez:
15
10
2024
Statut:
epublish
Résumé
X-linked agammaglobulinemia (XLA) due to a mutation in Bruton's tyrosine kinase (BTK), leads to the arrested development of B cells at the pro-B cell stage. This results in absent B cells and severe hypogammaglobulinemia. XLA patients usually present with recurrent sinopulmonary infection. Bacterial infections are the commonest [2], fungal infections like Pneumocystis jirovecii, Aspergillus and Candida species are rarely reported and they are associated with mortality in XLA [3]. We report a 3.5-year-old boy with disseminated aspergillosis, an uncommon presentation of XLA. Despite treatment with antifungals, including voriconazole and amphotericin B, the patient succumbed to the illness. Genetic analysis revealed a pathogenic variant in the BTK gene (R28H), confirming XLA diagnosis. This case highlights the potential for severe fungal infections in XLA patients and suggests broader immune system dysregulation beyond B-cell defects.
Identifiants
pubmed: 39404906
doi: 10.1007/s10875-024-01815-5
pii: 10.1007/s10875-024-01815-5
doi:
Substances chimiques
Agammaglobulinaemia Tyrosine Kinase
EC 2.7.10.2
Antifungal Agents
0
BTK protein, human
EC 2.7.10.2
Types de publication
Case Reports
Journal Article
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
24Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
Jodhawat N, Bargir UA, Setia P, Taur P, Bala N, Madkaikar A, et al. Normative data for paediatric lymphocyte subsets: a pilot study from western India. Indian J Med Res. 2023;158(2):161.
doi: 10.4103/ijmr.ijmr_3282_21
pubmed: 37787259
pmcid: 10645029
Lee PPW, Chen TX, Jiang LP, Chan KW, Yang W, Lee BW, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30(1):121–31.
doi: 10.1007/s10875-009-9341-5
pubmed: 19904586
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.
doi: 10.1007/s10875-022-01237-1
pubmed: 35288819
pmcid: 8920804
Ruchlemer R, Ben-Ami R, Bar-Meir M, Brown JR, Malphettes M, Mous R, et al. Ibrutinib-associated invasive fungal diseases in patients with chronic lymphocytic leukaemia and non-hodgkin lymphoma: an observational study. Mycoses. 2019;62(12):1140–7.
doi: 10.1111/myc.13001
pubmed: 31520441
Desai JV, Zarakas MA, Wishart AL, Roschewski M, Aufiero MA, Donkò A et al. BTK drives neutrophil activation for sterilizing antifungal immunity. J Clin Invest 134(12):e176142.
Lin SJ, Schranz J, Teutsch SM. Aspergillosis case-fatality rate: systematic review of the literature. Clin Infect Dis. 2001;32(3):358–66.
doi: 10.1086/318483
pubmed: 11170942