Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series

Simard, Marie-Lee; Nadeau, Marc-Antoine; Gauthier, Amélie; Cros, Guilhem; Lavoie, Aubert

doi:10.1007/s10875-023-01480-0

Cited by 2 publications

(1 citation statement)

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“…COVID-19 exhibits prolonged and recurrent forms of disease in patients with inborn and acquired forms of hypogammaglobulinemia ( 23 – 26 ). Prolonged viral shedding of SARS-CoV2 after clinical resolution of infection in our patient could be due to impaired viral clearance and within-host genetics variations of the virus, as previously described in patients with antibody deficiency ( 24 , 27 , 28 ). During the second episode of COVID-19, our patient was treated with a ten-day course of remdesivir, an antiviral agent that had promising results in the therapy of agammaglobulinemic patients ( 28 ).…”

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confidence: 73%

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia

Miskovic,

Ljubicic,

Bonaci-Nikolic

et al. 2024

Front. Immunol.

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IntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer’s disease (AD).Case descriptionWe present a Caucasian female patient born from a non-consanguineous marriage, who was diagnosed with agammaglobulinemia at the age of 15 years when the immunoglobulin replacement therapy was started. During the following seventeen years, she was treated for recurrent respiratory and intestinal infections. At the age of 33 years, the diagnosis of celiac-like disease was established. Five years later progressive cognitive deterioration, unstable gait, speech disturbances, and behavioral changes developed. Comprehensive microbiological investigations were negative, excluding possible infective etiology. Brain MRI, 18FDG-PET-CT, and neuropsychological testing were suggestive for a diagnosis of a frontal variant of AD. Clinical exome sequencing revealed the presence of a novel frameshift heterozygous variant c.441dup in exon 4 of the SPI1 gene. Despite intensive therapy, the patient passed away a few months after the onset of the first neurological symptoms.ConclusionWe describe the first case of PU.MA patient presenting with a rapidly progressive neurocognitive deterioration. The possible role of microglial dysfunction in patients with SPI1 mutation could explain their susceptibility to neurodegenerative diseases thus highlighting the importance of genetic testing in patients with inborn errors of immunity. Since PU.MA represents a newly described form of agammaglobulinemia, our case expands the spectrum of manifestations associated with SPI1 mutation.

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