T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients

Mohammed F Alosaimi; Hiba Shendi; Abdallah Beano; Kelsey Stafstrom; Rabab El Hawary; Safa Meshaal; Nermeen Galal; Sung-Yun Pai; Aisha El-Marsafy; Raif S Geha; Janet Chou

doi:10.1016/j.jaci.2019.02.020

T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients

J Allergy Clin Immunol. 2019 Jul;144(1):306-309.e2. doi: 10.1016/j.jaci.2019.02.020. Epub 2019 Mar 1.

Authors

Affiliations

¹ Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass; Department of Pediatrics, Allergy/Immunology Division, King Saud University, Riyadh, Saudi Arabia.
² Department of Pediatrics, Allergy/Immunology Division, Tawam Hospital and College of Medicine and Health Sciences, Al Ain, United Arab Emirates.
³ Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass.
⁴ Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
⁵ Pediatrics Department, Cairo University, Cairo, Egypt.
⁶ Division of Hematology-Oncology, Boston Children's Hospital, Department of Pediatric Oncology, Dana Farber Cancer Institute, and Harvard Medical School, Boston, Mass.
⁷ Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address: Janet.Chou@childrens.harvard.edu.

Abstract

This study delineates the mitochondrial defects in DOCK2-deficient T cells contributing to the T cell lymphopenia characteristic of this primary immunodeficiency.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural

MeSH terms

Female
GTPase-Activating Proteins / deficiency*
GTPase-Activating Proteins / genetics
Guanine Nucleotide Exchange Factors / deficiency*
Guanine Nucleotide Exchange Factors / genetics
Humans
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / immunology*
Infant
Male
Mitochondria / immunology*
Mutation
T-Lymphocytes / immunology*

Substances

DOCK2 protein, human
GTPase-Activating Proteins
Guanine Nucleotide Exchange Factors

Abstract

Publication types

MeSH terms

Substances

Grants and funding