A Saudi DOCK2-deficient patient with recurrent multiple infections including recalcitrant warts-Reference-Cited by-同舟云学术

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

Published:2024-02-13 Issue: Volume: Page:
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Author:

AlKhater Suzan A.¹^ORCID,Alsaleh Mona A.²,Chevalier Rémi³,Casanova Jean-Laurent⁴,Béziat Vivien⁵,Jouanguy Emmanuelle⁵,Zhang Shen-Ying⁵

Affiliation:

1. College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; Department of Pediatrics, King Fahad Hospital of the University, Al- Khobar, Saudi Arabia.

2. Department of Pediatrics, King Fahad Hospital of the University, Al- Khobar, Saudi Arabia.

3. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; University Paris Cité, Imagine Institute, Paris, France.

4. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; University Paris Cité, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, New York, NY, USA.

5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; University Paris Cité, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Abstract

Abstract 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.

Publisher

Research Square Platform LLC

Reference27 articles.

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