title: Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Safat, Kuwait. wemh@hotmail.com
authors.forename: Waleed
authors.initials: W
authors.lastname: Al-Herz
authors.forename: Raj
authors.initials: R
authors.lastname: Ragupathy
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
authors.forename: Raja'a
authors.initials: R
authors.lastname: Al-Attiyah
authors.forename: Arti
authors.initials: A
authors.lastname: Nanda
authors.forename: Karin R
authors.initials: KR
authors.lastname: Engelhardt
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.forename: Luigi
authors.initials: L
authors.lastname: Notarangelo
authors.forename: Talal
authors.initials: T
authors.lastname: Chatila
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D001424:Bacterial Infections / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000096:biosynthesis / Q000276:immunology; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007136:Immunoglobulins / Q000097:blood / Q000276:immunology; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D007223:Infant; D007730:Kuwait; D007963:Leukocytes, Mononuclear / Q000276:immunology / Q000378:metabolism; D008213:Lymphocyte Activation / Q000276:immunology; D008297:Male; D009154:Mutation; D009181:Mycoses / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D016896:Treatment Outcome; D014777:Virus Diseases / Q000276:immunology
chemical_list: D000900:Anti-Bacterial Agents; D016207:Cytokines; C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous