List of bibliographic references
Number of relevant bibliographic references: 21.
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Ident. | Authors (with country if any) | Title |
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000C68 (2015) |
Muhammad A. Mir [États-Unis] ; Samith T. Kochuparambil ; Roshini S. Abraham ; Vilmarie Rodriguez ; Matthew Howard ; Amy P. Hsu ; Amie E. Jackson ; Steven M. Holland ; Mrinal M. Patnaik | Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. |
001534 (2014) |
E S West [États-Unis] ; M Y Kingsbery ; E M Mintz ; A P Hsu ; S M Holland ; P L Rady ; S K Tyring ; M E Grossman | Generalized verrucosis in a patient with GATA2 deficiency. |
001535 (2014) |
Michael A. Spinner ; Lauren A. Sanchez ; Amy P. Hsu ; Pamela A. Shaw ; Christa S. Zerbe ; Katherine R. Calvo ; Diane C. Arthur ; Wenjuan Gu ; Christine M. Gould ; Carmen C. Brewer ; Edward W. Cowen ; Alexandra F. Freeman ; Kenneth N. Olivier ; Gulbu Uzel ; Adrian M. Zelazny ; Janine R. Daub ; Christine D. Spalding ; Reginald J. Claypool ; Neelam K. Giri ; Blanche P. Alter ; Emily M. Mace ; Jordan S. Orange ; Jennifer Cuellar-Rodriguez ; Dennis D. Hickstein ; Steven M. Holland | GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. |
001573 (2014) |
Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva Morava | Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. |
001687 (2014) |
Melissa A. Muszynski [États-Unis] ; Christa S. Zerbe [États-Unis] ; Steven M. Holland [États-Unis] ; Heidi H. Kong [États-Unis] | A woman with warts, leg swelling, and deafness. |
001D99 (2012) |
S. Gupta [États-Unis] ; D. Samra ; L. Yel ; S. Agrawal | T and B cell deficiency associated with yellow nail syndrome. |
002042 (2012) |
Hiroyuki Ishida [Japon] ; Kosuke Imai ; Kenichi Honma ; Shin-Ichi Tamura ; Toshihiko Imamura ; Masafumi Ito ; Shigeaki Nonoyama | GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. |
002126 (2012) |
Kirby D. Johnson [États-Unis] ; Amy P. Hsu ; Myung-Jeom Ryu ; Jinyong Wang ; Xin Gao ; Meghan E. Boyer ; Yangang Liu ; Youngsook Lee ; Katherine R. Calvo ; Sunduz Keles ; Jing Zhang ; Steven M. Holland ; Emery H. Bresnick | Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. |
002732 (2010) |
Alexander Kreuter ; Tim Waterboer ; Ulrike Wieland | Regression of cutaneous warts in a patient with WILD syndrome following recombinant quadrivalent human papillomavirus vaccination. |
002980 (2010) |
Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). |
002D41 (2009) |
Perdita Permaul [États-Unis] ; Anupama Narla ; Jason L. Hornick ; Sung-Yun Pai | Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. |
003E14 (2003) |
Aleksandra Bokszczanin [États-Unis] ; Arnold I. Levinson | Coexistent yellow nail syndrome and selective antibody deficiency. |
003F34 (2002) |
Asma Smahi [France] ; Gilles Courtois ; Smail Hadj Rabia ; Rainer Döffinger ; Christine Bodemer ; Arnold Munnich ; Jean-Laurent Casanova ; Alain Israël | The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. |
003F79 (2002) |
Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine Bodemer | Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. |
004140 (2001) |
R. Döffinger [France] ; A. Smahi ; C. Bessia ; F. Geissmann ; J. Feinberg ; A. Durandy ; C. Bodemer ; S. Kenwrick ; S. Dupuis-Girod ; S. Blanche ; P. Wood ; S H Rabia ; D J Headon ; P A Overbeek ; F. Le Deist ; S M Holland ; K. Belani ; D S Kumararatne ; A. Fischer ; R. Shapiro ; M E Conley ; E. Reimund ; H. Kalhoff ; M. Abinun ; A. Munnich ; A. Israël ; G. Courtois ; J L Casanova | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. |
005301 (1991) |
F K Nelson ; D L Greiner ; L D Shultz ; T V Rajan | The immunodeficient scid mouse as a model for human lymphatic filariasis. |
005467 (1990) |
M. Dandurand ; F. Bernard ; G. Barnéon ; E. Guilhou ; B. Guillot ; J J Guilhou | [Multiple spinocellular carcinomas on chronic lymphedema. Association with vitiligo]. |
005567 (1990) |
G E Kwan-Lim [Royaume-Uni] ; R M Maizels | MHC and non-MHC-restricted recognition of filarial surface antigens in mice transplanted with adult Brugia malayi parasites. |
005C32 (1986) |
I. Schneider | [Clinical picture, immunology and pathogenesis of recurring erysipelas]. |
006E44 (1969) |
S S Siegelman ; B H Heckman ; J. Hasson | Lymphedema, pleural effusions and yellow nails: associated immunologic deficiency. |
007969 (????) |
Valerie M. Carlberg [États-Unis] ; Sabra M. Lofgren ; Julianne A. Mann ; Jared P. Austin ; Dawn Nolt ; Evan B. Shereck ; Blachy Davila-Saldana ; Jonathan Zonana ; Alfons L. Krol | Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. |
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