1. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
- Author
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Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, and Geha RS
- Subjects
- Anti-Bacterial Agents therapeutic use, B-Lymphocytes immunology, B-Lymphocytes metabolism, Bacterial Infections immunology, Child, Child, Preschool, Cytokines biosynthesis, Cytokines immunology, Female, Guanine Nucleotide Exchange Factors genetics, Guanine Nucleotide Exchange Factors immunology, Hematopoietic Stem Cell Transplantation, Humans, Immunoglobulins blood, Immunoglobulins immunology, Immunoglobulins, Intravenous therapeutic use, Immunologic Deficiency Syndromes genetics, Infant, Kuwait, Leukocytes, Mononuclear immunology, Leukocytes, Mononuclear metabolism, Lymphocyte Activation immunology, Male, Mutation, Mycoses immunology, T-Lymphocytes immunology, Treatment Outcome, Virus Diseases immunology, Guanine Nucleotide Exchange Factors deficiency, Immunologic Deficiency Syndromes immunology
- Abstract
Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia., (Copyright © 2012 Elsevier Inc. All rights reserved.)
- Published
- 2012
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