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DOCK2 deficiency

Related gene: DOCK2

Inheritance pattern: Autosomal recessive

DOCK2 deficiency is an autosomal recessive disorder associated with early-onset invasive bacterial and viral infections, lymphopenia, and defective T, B, and NK cell function. DOCK2 protein is important not only for the cytoskeletal structure of peripheral blood leukocytes but also for thymus, spleen, and liver function. DOCK2 deficiency causes defective actin polymerization and migration in T, B, and NK cells, impaired NK cell killing ability, and diminished cytokine (interferon) production in peripheral blood mononuclear cells in response to viral infections with consequent increase in viral replication. 

Most known individuals with DOCK2 deficiency presented in the first four months of life with recurrent viral and bacterial respiratory tract infections, as well as chronic diarrhea and failure to thrive. Affected individuals may be susceptible to disseminated vaccine-strain varicella, oral thrush, and severe infections with nontuberculous mycobacteria, human herpesvirus-6, mumps, parainfluenza virus, adenovirus, cytomegalovirus (CMV), and Klebsiella pneumoniae. Additional clinical features include thrombocytopenia, hepatomegaly, and colitis. Treatment with interferons is under investigation, while hematopoietic stem cell transplantation (HSCT) may be curative for the disease.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
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