A novel <i>DOCK2</i> variant in siblings with severe combined immunodeficiency

Bruusgaard‐Mouritsen, Maria A.; Masmas, Tania Nicole; Borgwardt, Line; Nazaryan‐Petersen, Lusine; Heilmann, Carsten; Madsen, Hans O.; Marquart, Hanne Vibeke

doi:10.1111/sji.13243

Scand J Immunol

2023

DOI: 10.1111/sji.13243

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A novel DOCK2 variant in siblings with severe combined immunodeficiency

Maria A. Bruusgaard‐Mouritsen

Tania Nicole Masmas

Line Borgwardt

et al.

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2024

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A Saudi DOCK2-deficient patient with recurrent multiple infections including recalcitrant warts

AlKhater,

Alsaleh,

Chevalier

et al. 2024

Preprint

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Background Since the discovery of inherited DOCK2 deficiency in 2015, the clinical and immunological phenotypes of this condition have been progressively delineated with the description of 24 cases worldwide. Case Description: We report the first Saudi patient, who is homozygous for a novel DOCK2 variant, c.422dup p.(Lys142Glufs*12). Like previously reported cases, the patient had early onset pervasive viral and fungal infections, live attenuated measles, mumps, and rubella (MMR) and varicella vaccine-related disseminated viral infections, lymphopenia, and elevated serum IgE level. Notably, persistent cutaneous common warts were also observed in our patient, suggesting a previously unrecognized role of DOCK2 in host defense against human papillomaviruses. The wart lesions, along with the other infections, improved upon starting prophylaxis intravenous immunoglobulin (IVIG) therapy. She is also maintained on anti-infectious therapy and awaits hematopoietic stem cell transplantation, pending a matching donor. Conclusions This patient expands the genetic and phenotypic spectrum of inherited DOCK2 deficiency.

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A Saudi DOCK2-deficient patient with recurrent multiple infections including recalcitrant warts

AlKhater,

Alsaleh,

Chevalier

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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A novel DOCK2 variant in siblings with severe combined immunodeficiency

Cited by 1 publication

References 10 publications

A Saudi DOCK2-deficient patient with recurrent multiple infections including recalcitrant warts

A Saudi DOCK2-deficient patient with recurrent multiple infections including recalcitrant warts

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