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Journal Articles

Primary Antibody Deficiencies: Scientific Discoveries Leading to Challenging Paradigms in a Complex Disease Landscape

Anne Durandy, MD PhD, Sven Kracker, PhD, Marina Cavazzana, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): SCI-28.
https://doi.org/10.1182/blood.V130.Suppl_1.SCI-28.SCI-28
Published: 2017
Journal Articles

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

Hye Sun Kuehn, Julie E. Niemela, Karthik Sreedhara, Jennifer L. Stoddard, Jennifer Grossman, Christian A. Wysocki, M. Teresa de la Morena, Mary Garofalo, Jingga Inlora, Michael P. Snyder, David B. Lewis, Constantine A. Stratakis, Thomas A. Fleisher, Sergio D. Rosenzweig
Journal: Blood
Blood (2017) 130 (13): 1553–1564.
https://doi.org/10.1182/blood-2017-05-782177
Published: 2017
Includes: Supplemental data
Journal Articles

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

Shuhei Karakawa, M.D, Satoshi Okada, MD, Miyuki Tsumura, BSc, Yoko Mizoguchi, MD, Norioki Ohno, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Tomoki Kawai, MD, Ryuta Nishikomori, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD
Journal: Blood
Blood (2010) 116 (21): 1732.
https://doi.org/10.1182/blood.V116.21.1732.1732
Published: 2010
Journal Articles

A Novel Splicing Mutation in NEMO Gene in a Patient with X-Linked Ectodermal Dysplasia with Immunodeficiency.

Syuhei Karakawa, MD, Satoshi Okada, MD, Miyuki Tsumura, MA, Yoko Mizoguchi, MD, Tomoki Kawai, MD, Ryota Nishikomori, MD, Shin'ichiro Yasunaga, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD, PhD
Journal: Blood
Blood (2009) 114 (22): 2665.
https://doi.org/10.1182/blood.V114.22.2665.2665
Published: 2009
Journal Articles

Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination

Clinical Trials & Observations
Stephane T. Temmerman, Chi A. Ma, Louis Borges, Marek Kubin, Shuying Liu, Jonathan M. J. Derry, Ashish Jain
Journal: Blood
Blood (2006) 108 (7): 2324–2331.
https://doi.org/10.1182/blood-2006-04-017210
Published: 2006
Journal Articles

That fish (NEMO) again?

Gulbu Uzel
Journal: Blood
Blood (2006) 108 (7): 2135.
https://doi.org/10.1182/blood-2006-07-034637
Published: 2006
Journal Articles

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

Clinical Trials & Observations
Ryuta Nishikomori, Hiroshi Akutagawa, Kyoko Maruyama, Mami Nakata-Hizume, Katsuyuki Ohmori, Kazunori Mizuno, Akihiro Yachie, Takahiro Yasumi, Takashi Kusunoki, Toshio Heike, Tatsutoshi Nakahata
Journal: Blood
Blood (2004) 103 (12): 4565–4572.
https://doi.org/10.1182/blood-2003-10-3655
Published: 2004