Atypical presentation of severe fungal necrotizing fasciitis in a patient with X-Linked Agammaglobulinemia

Chear, Chai Teng and Nallusamy, Revathy and Chan, Kwai Cheng and Mohd Tap, Ratna and Baharin, Mohd Farid and Syed Yahya, Sharifah Nurul Husna and Krishnan, Prasobhan Bala and Bin Mohamad, Saharuddin and Ripen, Adiratna Mat (2021) Atypical presentation of severe fungal necrotizing fasciitis in a patient with X-Linked Agammaglobulinemia. Journal of Clinical Immunology, 41 (6). pp. 1178-1186. ISSN 0271-9142, DOI

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X-linked agammaglobulinemia is a rare primary immunodeficiency due to a BTK mutation. The patients are characteristically deficient in peripheral B cells and serum immunoglobulins. While they are susceptible to infections caused by bacteria, enteroviruses, and parasites, fungal infections are uncommon in XLA patients. Here, we report a boy of Malay ethnicity who suffered from recurrent upper respiratory tract infections and severe progressive necrotizing fasciitis caused by Saksenaea erythrospora. Immunological tests showed a B cell deficiency and hypogammaglobulinemia. Whole-exome sequencing identified a dinucleotide deletion (c.1580_1581del) in BTK, confirmed by Sanger sequencing and predicted to be disease causing by in silico functional prediction tools (Varsome and MutationTaster2) but was absent in the gnomAD database. This mutation resulted in a frameshift and premature termination (p.C527fs), which disrupted the protein structure. The mother was heterozygous at the mutation site, confirming her carrier status. Flow cytometric analysis of monocyte BTK expression showed it to be absent in the patient and bimodal in the mother. This study describes a novel BTK mutation in a defined hotspot and an atypical fungal phenotype in XLA. Further studies are required to understand the pathogenesis of fungal infection in XLA.

Item Type: Article
Funders: Ministry of Health, Malaysia[NMRR-16-892-31023]
Uncontrolled Keywords: Necrotizing fasciitis;Saksenaea erythrospora;X-linked agammaglobulinemia;BTK;Mutation
Subjects: Q Science > Q Science (General)
R Medicine
R Medicine > R Medicine (General)
Divisions: Faculty of Science
Depositing User: Ms Zaharah Ramly
Date Deposited: 20 Jun 2022 06:39
Last Modified: 20 Jun 2022 06:39

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