Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Waleed Al-Herz; Raj Ragupathy; Michel J. Massaad; Raja'a Al-Attiyah; Arti Nanda; Karin R. Engelhardt; Bodo Grimbacher; Luigi Notarangelo; Talal Chatila; Raif S. Geha

doi:10.1016/j.clim.2012.03.002

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Waleed Al-Herz, Raj Ragupathy, Michel J. Massaad, Raja'a Al-Attiyah, Arti Nanda, Karin R. Engelhardt, Bodo Grimbacher, Luigi Notarangelo, Talal Chatila, Raif S. Geha

Kuwait University

Research output: Contribution to journal › Article › peer-review

59 Scopus citations

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.

Original language	English
Pages (from-to)	266-272
Number of pages	7
Journal	Clinical Immunology
Volume	143
Issue number	3
DOIs	https://doi.org/10.1016/j.clim.2012.03.002
State	Published - Jun 2012

Keywords

Combined immunodeficiency
Consanguinity
DOCK8 deficiency
Eczema
IgE
Kuwait

Funding Agency

Kuwait Foundation for the Advancement of Sciences

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10.1016/j.clim.2012.03.002

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@article{e7f13df6b5e04fa5bb9b7b0d500e1808,

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.",

keywords = "Combined immunodeficiency, Consanguinity, DOCK8 deficiency, Eczema, IgE, Kuwait",

author = "Waleed Al-Herz and Raj Ragupathy and Massaad, \{Michel J.\} and Raja'a Al-Attiyah and Arti Nanda and Engelhardt, \{Karin R.\} and Bodo Grimbacher and Luigi Notarangelo and Talal Chatila and Geha, \{Raif S.\}",

note = "Funding Information: We are very grateful to the patients and their families for participation in this study. The project was supported by the Kuwait Foundation for Advancement of Sciences ( 2010-1302-05 ) and by a grant from the Dubai Harvard Foundation for Medical Research (RSG and LDN).",

year = "2012",

month = jun,

doi = "10.1016/j.clim.2012.03.002",

language = "English",

volume = "143",

pages = "266--272",

journal = "Clinical Immunology",

issn = "1521-6616",

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T1 - Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

AU - Al-Herz, Waleed

AU - Ragupathy, Raj

AU - Massaad, Michel J.

AU - Al-Attiyah, Raja'a

AU - Nanda, Arti

AU - Engelhardt, Karin R.

AU - Grimbacher, Bodo

AU - Notarangelo, Luigi

AU - Chatila, Talal

AU - Geha, Raif S.

N1 - Funding Information: We are very grateful to the patients and their families for participation in this study. The project was supported by the Kuwait Foundation for Advancement of Sciences ( 2010-1302-05 ) and by a grant from the Dubai Harvard Foundation for Medical Research (RSG and LDN).

PY - 2012/6

Y1 - 2012/6

N2 - 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.

AB - 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.

KW - Combined immunodeficiency

KW - Consanguinity

KW - DOCK8 deficiency

KW - Eczema

KW - IgE

KW - Kuwait

UR - https://www.scopus.com/pages/publications/84861235270

U2 - 10.1016/j.clim.2012.03.002

DO - 10.1016/j.clim.2012.03.002

M3 - Article

C2 - 22534316

AN - SCOPUS:84861235270

SN - 1521-6616

VL - 143

SP - 266

EP - 272

JO - Clinical Immunology

JF - Clinical Immunology

IS - 3

ER -

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Abstract

Keywords

Funding Agency

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