First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature

First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature Publisher

Sharifinejad N¹ ; Sadri H^{1, 4} ; Kalantari A² ; Delavari S³ ; Noohi A⁴ ; Aminpour Y⁴ ; Sabzevari A⁵ ; Azizi G^{1, 3}

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1. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
2. Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Childrenâ€™s Medical Center, Tehran University of Medical Science, Tehran, Iran
4. Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran
5. CinnaGen Medical Biotechnology Research Center, Alborz University of Medical Sciences, Karaj, Iran

Source: Allergy# Asthma and Clinical Immunology Published:2021

Abstract

Background: Dedicator of cytokinesis 2 (DOCK2) deficiency is an inborn error of immunity characterized by cellular and humoral immunological abnormalities leading to early-onset infections. Case presentation: We reported a novel case of a 27 months old girl presenting with recurrent pneumonia and a history of skeletal tuberculosis at the age of 19-month-old. Her immunological workup revealed persistent lymphopenia and low CD4 + T cell count along with elevated levels of CD19 +, CD20 +, CD16 +, and CD56 + cells. Furthermore, she had a high level of immunoglobulin (Ig) E and a slightly reduced IgM level with a non-protective antibody titer against diphtheria. The whole-exome sequencing (WES) analysis identified a homozygous frameshift deletion mutation (c.1512delG, p.I505Sfs*28) in exon 16 of the DOCK2 gene. We also conducted electronic searches in PubMed, Web of Science, and Scopus databases and reviewed the articles reporting patients with DOCK2 deficiency. The literature search yielded 14 DOCK2-deficient patients suffering from both cellular and humoral immune defects leading to early-onset infections, particularly human herpesvirus (HHV) infection. Conclusion: DOCK2 deficiency should be considered in the context of severe or unusual early-onset infections, especially HHV infections, in a patient with a probable clinical diagnosis of combined immunodeficiency. We also recommended that DOCK2-deficient patients might benefit from T-cell receptor excision circle (TREC) assay as part of the routine newborn screening program. © 2021, The Author(s).

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Style	Citing Format
MLA	Sharifinejad N, et al.. "First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature." Allergy# Asthma and Clinical Immunology, vol. 17, no. 1, 2021, pp. -.
APA	Sharifinejad N, Sadri H, Kalantari A, Delavari S, Noohi A, Aminpour Y, Sabzevari A, Azizi G (2021). First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature. Allergy# Asthma and Clinical Immunology, 17(1), -.
Chicago	Sharifinejad N, Sadri H, Kalantari A, Delavari S, Noohi A, Aminpour Y, Sabzevari A, Azizi G. "First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature." Allergy# Asthma and Clinical Immunology 17, no. 1 (2021): -.
Harvard	Sharifinejad N et al. (2021) 'First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature', Allergy# Asthma and Clinical Immunology, 17(1), pp. -.
Vancouver	Sharifinejad N, Sadri H, Kalantari A, Delavari S, Noohi A, Aminpour Y, et al.. First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature. Allergy# Asthma and Clinical Immunology. 2021;17(1):-.
BibTex	@article{ author = {Sharifinejad N and Sadri H and Kalantari A and Delavari S and Noohi A and Aminpour Y and Sabzevari A and Azizi G}, title = {First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature}, journal = {Allergy# Asthma and Clinical Immunology}, volume = {17}, number = {1}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Sharifinejad N AU - Sadri H AU - Kalantari A AU - Delavari S AU - Noohi A AU - Aminpour Y AU - Sabzevari A AU - Azizi G TI - First Patient in the Iranian Registry With Novel Dock2 Gene Mutation, Presenting With Skeletal Tuberculosis, and Review of Literature JO - Allergy# Asthma and Clinical Immunology VL - 17 IS - 1 SP - EP - PY - 2021 ER -

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