Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

被引：363

作者：

Boisson, Bertrand ^{[1
]}

Laplantine, Emmanuel ^{[2
]}

Prando, Carolina ^{[1
]}

Giliani, Silvia ^{[3
,4
]}

Israelsson, Elisabeth ^{[5
]}

Xu, Zhaohui ^{[6
,7
]}

Abhyankar, Avinash ^{[1
]}

Israel, Laura ^{[8
,9
]}

Trevejo-Nunez, Giraldina ^{[1
]}

Bogunovic, Dusan ^{[1
]}

Cepika, Alma-Martina ^{[6
,7
]}

MacDuff, Donna ^{[10
,11
]}

Chrabieh, Maya ^{[8
,9
]}

Hubeau, Marjorie ^{[8
,9
]}

Bajolle, Fanny ^{[12
]}

Debre, Marianne ^{[13
]}

Mazzolari, Evelina ^{[3
,4
]}

Vairo, Donatella ^{[3
,4
]}

Agou, Fabrice ^{[14
]}

Virgin, Herbert W. ^{[10
,11
]}

Bossuyt, Xavier ^{[15
]}

Rambaud, Caroline ^{[16
]}

Facchetti, Fabio ^{[17
,18
]}

Bonnet, Damien ^{[9
,12
]}

Quartier, Pierre ^{[9
,13
]}

Fournet, Jean-Christophe ^{[9
,19
]}

Pascual, Virginia ^{[6
,7
]}

Chaussabel, Damien ^{[5
,6
,7
]}

Notarangelo, Luigi D. ^{[20
,21
]}

Puel, Anne ^{[8
,9
]}

Israel, Alain ^{[2
]}

Casanova, Jean-Laurent ^{[1
,8
,9
,13
]}

Picard, Capucine ^{[8
,9
,13
,22
]}

机构：

[1] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA

[2] CNRS, Unite Rech Assoc URA 2582, Lab Mol Signaling & Cell Activat, Inst Pasteur, Paris, France

[3] Univ Brescia, Spedali Civili & Pediat Clin, Dept Pathol, Lab Genet Disorders Childhood,A Nocivelli Inst Mo, Brescia, Italy

[4] Univ Brescia, Spedali Civili & Pediat Clin, Dept Pathol, Pediat Clin,A Nocivelli Inst Mol Med, Brescia, Italy

[5] Benaroya Res Inst Virginia Mason, Dept Syst Immunol, Seattle, WA USA

[6] Baylor Res Inst, Dallas, TX USA

[7] Baylor Inst Immunol Res, Dallas, TX USA

[8] Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, Paris, France

[9] Paris Descartes Univ, Paris, France

[10] Washington Univ, Sch Med, St Louis, MO USA

[11] Midwest Reg Ctr Excellence Biodef & Emerging, St Louis, MO USA

[12] Hop Necker Enfants Malad, AP HP, Reference Ctr Complex Congenital Heart Defects, Paris, France

[13] Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France

[14] CNRS, URA 2185, Struct & Cellular Biochem Unit, Inst Pasteur, Paris, France

[15] Catholic Univ Louvain, Biomed Sci Grp, Dept Microbiol & Immunol, Expt Immunol Lab, B-3000 Louvain, Belgium

[16] AP HP, Pathol Lab, Garches, France

[17] Univ Brescia, Brescia, Italy

[18] Spedali Civil Brescia, Dept Pathol, I-25125 Brescia, Italy

[19] Hop Necker Enfants Malad, AP HP, Pathol Lab, Paris, France

[20] Harvard Univ, Childrens Hosp, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

[21] Harvard Univ, Childrens Hosp, Sch Med, Div Immunol, Boston, MA 02115 USA

[22] Hop Necker Enfants Malad, Study Ctr Primary Immunodeficiencies, AP HP, Paris, France

来源：

NATURE IMMUNOLOGY | 2012年 / 13卷 / 12期

基金：

美国国家卫生研究院;

关键词：

KAPPA-B ACTIVATION; ANHIDROTIC ECTODERMAL DYSPLASIA; PYOGENIC BACTERIAL-INFECTIONS; SEQUENCING-BASED DISCOVERY; CHAIN ASSEMBLY COMPLEX; GLYCOGENOSIS TYPE-IV; LAFORA DISEASE; MYD88; DEFICIENCY; SHARPIN; INFLAMMATION;

D O I：

10.1038/ni.2457

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1), a component of the linear ubiquitination chain assembly complex (LUBAC). These mutations resulted in impairment of LUBAC stability. NF-kappa B activation in response to interleukin 1 beta (IL-1 beta) was compromised in the patients' fibroblasts. By contrast, the patients' mononuclear leukocytes, particularly monocytes, were hyper-responsive to IL-1 beta. The consequences of human HOIL-1 and LUBAC deficiencies for IL-1 beta responses thus differed between cell types, consistent with the unique association of autoinflammation and immunodeficiency in these patients. These data suggest that LUBAC regulates NF-kappa B-dependent IL-1 beta responses differently in different cell types.

引用

页码：1178 / +

页数：11

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