Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-κB essential modulator mutation, with or without ectodermal dysplasia

被引：20

作者：

Dai, YS

Liang, MG

Gellis, SE

Bonilla, FA

Schneider, LC

Geha, RS

Orange, JS

机构：

[1] Childrens Hosp Philadelphia, Div Immunol, Philadelphia, PA 19104 USA

[2] Natl Taiwan Univ Hosp, Dept Dermatol, Taipei, Taiwan

[3] Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[4] Childrens Hosp, Div Dermatol, Boston, MA 02115 USA

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 2004年 / 51卷 / 05期

关键词：

D O I：

10.1016/j.jaad.2004.05.032

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Hypomorphic mutations of the nuclear factor kappaB essential modulator gene cause ectodermal dysplasia and immunodeficiency. Affected patients have increased susceptibility to mycobacterial disease including cutaneous manifestations. We describe clinical and histopathologic characteristics of 5 patients with nuclear factor kappaB essential modulator gene mutations and mycobacterial infections, two of whom had mycobacterial cutaneous infections.

引用

收藏

页码：718 / 722

页数：5

相关论文

共 20 条

[1] Cutaneous infections due to nontuberculous mycobacteria:: histopathological review of 28 cases.: Comparative study between lesions observed in immunosuppressed patients and normal hosts [J].

Bartralot, R ;

Pujol, RM ;

García-Patos, V ;

Sitjas, D ;

Martín-Casabona, N ;

Coll, P ;

Alomar, A ;

Castells, A .

JOURNAL OF CUTANEOUS PATHOLOGY, 2000, 27 (03) :124-129

[2] Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO [J].

Carrol, ED ;

Gennery, AR ;

Flood, TJ ;

Spickett, GP ;

Abinun, M .

ARCHIVES OF DISEASE IN CHILDHOOD, 2003, 88 (04) :340-341

[3] A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency [J].

Courtois, G ;

Smahi, A ;

Reichenbach, J ;

Döffinger, R ;

Cancrini, C ;

Bonnet, M ;

Puel, A ;

Chable-Bessia, C ;

Yamaoka, S ;

Feinberg, J ;

Dupuis-Girod, S ;

Bodemer, C ;

Livadiotti, S ;

Novelli, F ;

Rossi, P ;

Fischer, A ;

Israël, A ;

Munnich, A ;

Le Deist, F ;

Casanova, JL .

JOURNAL OF CLINICAL INVESTIGATION, 2003, 112 (07) :1108-1115

[4] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling [J].

Döffinger, R ;

Smahi, A ;

Bessia, C ;

Geissmann, F ;

Feinberg, J ;

Durandy, A ;

Bodemer, C ;

Kenwrick, S ;

Dupuis-Girod, S ;

Blanche, S ;

Wood, P ;

Rabia, SH ;

Headon, DJ ;

Overbeek, PA ;

Le Deist, F ;

Holland, SM ;

Belani, K ;

Kumararatne, DS ;

Fischer, A ;

Shapiro, R ;

Conley, ME ;

Reimund, E ;

Kalhoff, H ;

Abinun, M ;

Munnich, A ;

Israël, A ;

Courtois, G ;

Casanova, JL .

NATURE GENETICS, 2001, 27 (03) :277-285

[5] Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother -: art. no. e97 [J].

Dupuis-Girod, S ;

Corradini, N ;

Hadj-Rabia, S ;

Fournet, JC ;

Faivre, L ;

Le Deist, F ;

Durand, P ;

Döffinger, R ;

Smahi, A ;

Israel, A ;

Courtois, G ;

Brousse, N ;

Blanche, S ;

Munnich, A ;

Fischer, A ;

Casanova, JL ;

Bodemer, C .

PEDIATRICS, 2002, 109 (06) :e97

[6] Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells [J].

Ezer, S ;

Bayés, M ;

Elomaa, O ;

Schlessinger, D ;

Kere, J .

HUMAN MOLECULAR GENETICS, 1999, 8 (11) :2079-2086

[7] PATHOLOGICAL FINDINGS IN DISSEMINATED MYCOBACTERIUM AVIUM-INTRACELLULAR INFECTION - A REPORT OF 11 CASES [J].

FARHI, DC ;

MASON, UG ;

HORSBURGH, CR .

AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1986, 85 (01) :67-72

[8] Gene defect in ectodermal dysplasia implicates a death domain adapter in development [J].

Headon, DJ ;

Emmal, SA ;

Ferguson, BM ;

Tucker, AS ;

Justice, MJ ;

Sharpe, PT ;

Zonana, J ;

Overbeek, PA .

NATURE, 2001, 414 (6866) :913-916

[9] Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia [J].

Jain, A ;

Ma, CA ;

Liu, SY ;

Brown, M ;

Cohen, J ;

Strober, W .

NATURE IMMUNOLOGY, 2001, 2 (03) :223-228

[10] Sporotrichoid cutaneous Mycobacterium avium complex infection [J].

Kayal, JD ;

McCall, CO .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2002, 47 (05) :S249-S250