共 5 条
[1]
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency
[J].
Boisson, Bertrand
;
Puel, Anne
;
Picard, Capucine
;
Casanova, Jean-Laurent
.
JOURNAL OF CLINICAL IMMUNOLOGY,
2017, 37 (05)
:397-412

Boisson, Bertrand
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM UMR1163, Paris, France
Paris Descartes Univ, Imagine Inst, Paris, France Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

论文数: 引用数:
h-index:
机构:

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM UMR1163, Paris, France
Paris Descartes Univ, Imagine Inst, Paris, France
Necker Hosp Sick Children, AP HP, Pediat Hematol Immunol & Rheumatol Unit, Paris, France
Necker Hosp Sick Children, AP HP, Study Ctr Immunodeficiencies, Paris, France Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM UMR1163, Paris, France
Paris Descartes Univ, Imagine Inst, Paris, France
Necker Hosp Sick Children, AP HP, Pediat Hematol Immunol & Rheumatol Unit, Paris, France
Howard Hughes Med Inst, New York, NY USA Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
[2]
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

Courtois, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Smahi, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Reichenbach, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Döffinger, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Cancrini, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Bonnet, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Puel, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Chable-Bessia, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Yamaoka, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Feinberg, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Dupuis-Girod, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Bodemer, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Livadiotti, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Novelli, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Rossi, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Fischer, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Israël, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Munnich, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Le Deist, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France

Casanova, JL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Lab Genet Humaine Malad Infect, INSERM, Fac Med Necker Enfants Malades,U550, F-75015 Paris, France
[3]
A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
[J].
Ohnishi, Hidenori
;
Miyata, Rie
;
Suzuki, Tomonori
;
Nose, Touichiro
;
Kubota, Kazuo
;
Kato, Zenichiro
;
Kaneko, Hideo
;
Kondo, Naomi
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2012, 129 (02)
:578-580

Ohnishi, Hidenori
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Miyata, Rie
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Kita Social Insurance Hosp, Dept Pediat, Tokyo, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Suzuki, Tomonori
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Kita Social Insurance Hosp, Dept Pediat, Tokyo, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Nose, Touichiro
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Kita Social Insurance Hosp, Dept Pediat, Tokyo, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Kubota, Kazuo
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Kato, Zenichiro
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Kaneko, Hideo
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan
Nagara Med Ctr, Dept Clin Res, Gifu, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan

Kondo, Naomi
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan
[4]
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
[J].
Petersheim, Daniel
;
Massaad, Michel J.
;
Lee, Saetbyul
;
Scarselli, Alessia
;
Cancrini, Caterina
;
Moriya, Kunihiko
;
Sasahara, Yoji
;
Lankester, Arjan C.
;
Dorsey, Morna
;
Di Giovanni, Daniela
;
Bezrodnik, Liliana
;
Ohnishi, Hidenori
;
Nishikomori, Ryuta
;
Tanita, Kay
;
Kanegane, Hirokazu
;
Morio, Tomohiro
;
Gelfand, Erwin W.
;
Jain, Ashish
;
Secord, Elizabeth
;
Picard, Capucine
;
Casanova, Jean-Laurent
;
Albert, Michael H.
;
Torgerson, Troy R.
;
Geha, Raif S.
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2018, 141 (03)
:1060-+

Petersheim, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA
Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Massaad, Michel J.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Lee, Saetbyul
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Scarselli, Alessia
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Dept Pediat, Div Immunol & Infect Dis, Rome, Italy
Univ Roma Tor Vergata, Rome, Italy Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Cancrini, Caterina
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Dept Pediat, Div Immunol & Infect Dis, Rome, Italy
Univ Roma Tor Vergata, Rome, Italy Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Moriya, Kunihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Dept Pediat, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Sasahara, Yoji
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Dept Pediat, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Lankester, Arjan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Pediat, Leiden, Netherlands Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Dorsey, Morna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Div Allergy Immunol & Bone Marrow Transplantat, San Francisco, CA 94143 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Di Giovanni, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Ricardo Gutierrez Childrens Hosp, Serv Immunol, Buenos Aires, DF, Argentina Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Bezrodnik, Liliana
论文数: 0 引用数: 0
h-index: 0
机构:
Ricardo Gutierrez Childrens Hosp, Serv Immunol, Buenos Aires, DF, Argentina Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Ohnishi, Hidenori
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Dept Pediat, Gifu, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Nishikomori, Ryuta
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Dept Pediat, Kyoto, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Tanita, Kay
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Med & Dent Univ, Dept Pediat, Tokyo, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Kanegane, Hirokazu
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Med & Dent Univ, Dept Pediat, Tokyo, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Morio, Tomohiro
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Med & Dent Univ, Dept Pediat, Tokyo, Japan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Gelfand, Erwin W.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Jewish Hlth, Dept Pediat, Immunodeficiency Diag & Treatment Program, Denver, CO USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Jain, Ashish
论文数: 0 引用数: 0
h-index: 0
机构:
Merck Res Labs Boston, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Secord, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Michigan, Div Allergy Asthma & Immunol, Detroit, MI 48201 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Necker Hosp, Pediat Hematol Immunol & Rheumatol Unit, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Necker Hosp, Pediat Hematol Immunol & Rheumatol Unit, Paris, France
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Albert, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dr von Hauner Univ Childrens Hosp, Dept Pediat Hematol & Oncol, Munich, Germany Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Torgerson, Troy R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA

Geha, Raif S.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA USA
[5]
Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation
[J].
Yoshioka, Takakazu
;
Nishikomori, Ryuta
;
Hara, Junichi
;
Okada, Keiko
;
Hashii, Yoshiko
;
Okafuji, Ikuo
;
Nodomi, Seishiro
;
Kawai, Tomoki
;
Izawa, Kazushi
;
Ohnishi, Hidenori
;
Yasumi, Takahiro
;
Nakahata, Tatsutoshi
;
Heike, Toshio
.
JOURNAL OF CLINICAL IMMUNOLOGY,
2013, 33 (07)
:1165-1174

Yoshioka, Takakazu
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Nishikomori, Ryuta
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Hara, Junichi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka City Gen Hosp, Dept Pediat Hematol & Oncol, Osaka, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Okada, Keiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka City Gen Hosp, Dept Pediat Hematol & Oncol, Osaka, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Hashii, Yoshiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Dept Dev Med, Grad Sch Med, Suita, Osaka, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Okafuji, Ikuo
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Nodomi, Seishiro
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Kawai, Tomoki
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Izawa, Kazushi
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Ohnishi, Hidenori
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Dept Pediat, Grad Sch Med, Gifu, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

论文数: 引用数:
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Nakahata, Tatsutoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Ctr iPS Cell Res & Applicat, Dept Clin Applicat, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan

Heike, Toshio
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto 6068507, Japan