A citation-based method for searching scientific literature

Anna Villa, Luigi D Notarangelo, Chaim M Roifman. J Allergy Clin Immunol 2008
Times Cited: 131







List of co-cited articles
1157 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Combined immunodeficiency associated with DOCK8 mutations.
Qian Zhang, Jeremiah C Davis, Ian T Lamborn, Alexandra F Freeman, Huie Jing, Amanda J Favreau, Helen F Matthews, Joie Davis, Maria L Turner, Gulbu Uzel,[...]. N Engl J Med 2009
433
21

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
Kerstin Felgentreff, Ruy Perez-Becker, Carsten Speckmann, Klaus Schwarz, Krzysztof Kalwak, Gasper Markelj, Tadej Avcin, Waseem Qasim, E G Davies, Tim Niehues,[...]. Clin Immunol 2011
101
19

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
William T Shearer, Elizabeth Dunn, Luigi D Notarangelo, Christopher C Dvorak, Jennifer M Puck, Brent R Logan, Linda M Griffith, Donald B Kohn, Richard J O'Reilly, Thomas A Fleisher,[...]. J Allergy Clin Immunol 2014
155
19

Partial V(D)J recombination activity leads to Omenn syndrome.
A Villa, S Santagata, F Bozzi, S Giliani, A Frattini, L Imberti, L B Gatta, H D Ochs, K Schwarz, L D Notarangelo,[...]. Cell 1998
305
17

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Antonia Kwan, Roshini S Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Jordan K Abbott, Mei Baker, Mark Ballow, Louis E Bartoshesky, Francisco A Bonilla,[...]. JAMA 2014
327
17

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Karin R Engelhardt, Sean McGhee, Sabine Winkler, Atfa Sassi, Cristina Woellner, Gabriela Lopez-Herrera, Andrew Chen, Hong Sook Kim, Maria Garcia Lloret, Ilka Schulze,[...]. J Allergy Clin Immunol 2009
316
14

STAT3 mutations in the hyper-IgE syndrome.
Steven M Holland, Frank R DeLeo, Houda Z Elloumi, Amy P Hsu, Gulbu Uzel, Nina Brodsky, Alexandra F Freeman, Andrew Demidowich, Joie Davis, Maria L Turner,[...]. N Engl J Med 2007
766
13

Defect of regulatory T cells in patients with Omenn syndrome.
Barbara Cassani, Pietro Luigi Poliani, Daniele Moratto, Cristina Sobacchi, Veronica Marrella, Laura Imperatori, Donatella Vairo, Alessandro Plebani, Silvia Giliani, Paolo Vezzoni,[...]. J Allergy Clin Immunol 2010
52
25

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
A Villa, C Sobacchi, L D Notarangelo, F Bozzi, M Abinun, T G Abrahamsen, P D Arkwright, M Baniyash, E G Brooks, M E Conley,[...]. Blood 2001
241
12

Omenn syndrome is associated with mutations in DNA ligase IV.
Eyal Grunebaum, Andrea Bates, Chaim M Roifman. J Allergy Clin Immunol 2008
70
17

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J Lyons, Shrimati Datta, Ian T Lamborn, Huie Jing, Emily S Kim, Matthew Biancalana, Lynne A Wolfe,[...]. J Allergy Clin Immunol 2014
132
12

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
Jean-Pierre de Villartay, Annick Lim, Hamoud Al-Mousa, Sophie Dupont, Julie Déchanet-Merville, Edith Coumau-Gatbois, Marie-Lise Gougeon, Arnaud Lemainque, Céline Eidenschenk, Emmanuelle Jouanguy,[...]. J Clin Invest 2005
132
11

Omenn syndrome in an infant with IL7RA gene mutation.
Silvia Giliani, Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D Notarangelo, Francoise Le Deist. J Pediatr 2006
66
16

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.
Amy A Caudy, Sreelatha T Reddy, Talal Chatila, John P Atkinson, James W Verbsky. J Allergy Clin Immunol 2007
248
11

Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening.
Lucinda Brown, Jinhua Xu-Bayford, Zoe Allwood, Mary Slatter, Andrew Cant, E Graham Davies, Paul Veys, Andrew R Gennery, H Bobby Gaspar. Blood 2011
140
11

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Tuba Turul, Ilhan Tezcan, Hasibe Artac, Sandra de Bruin-Versteeg, Barbara H Barendregt, Ismail Reisli, Ozden Sanal, Jacques J M van Dongen, Mirjam van der Burg. Eur J Pediatr 2009
63
17


Omenn syndrome due to ARTEMIS mutations.
Markus Ege, Yunmei Ma, Burkhard Manfras, Krzysztof Kalwak, Haihui Lu, Michael R Lieber, Klaus Schwarz, Ulrich Pannicke. Blood 2005
138
11

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
Sung-Yun Pai, Brent R Logan, Linda M Griffith, Rebecca H Buckley, Roberta E Parrott, Christopher C Dvorak, Neena Kapoor, Imelda C Hanson, Alexandra H Filipovich, Soma Jyonouchi,[...]. N Engl J Med 2014
338
11

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, H Bobby Gaspar, Steven M Holland,[...]. Front Immunol 2014
289
11

Reviewing Omenn syndrome.
K Aleman, J G Noordzij, R de Groot, J J van Dongen, N G Hartwig. Eur J Pediatr 2001
75
13

Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
Suk See De Ravin, Edward W Cowen, Kol A Zarember, Narda L Whiting-Theobald, Douglas B Kuhns, Netanya G Sandler, Daniel C Douek, Stefania Pittaluga, Pietro L Poliani, Yu Nee Lee,[...]. Blood 2010
77
12

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.
M Louise Markert, Marilyn J Alexieff, Jie Li, Marcella Sarzotti, Daniel A Ozaki, Blythe H Devlin, Gregory D Sempowski, Maria E Rhein, Paul Szabolcs, Laura P Hale,[...]. J Allergy Clin Immunol 2004
97
10



PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, Lars Mørkrid, Niti Y Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja B P Elgstøen, Magnar Bjørås, Marcin W Wlodarski,[...]. Am J Hum Genet 2014
95
10

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Atfa Sassi, Sandra Lazaroski, Gang Wu, Stuart M Haslam, Manfred Fliegauf, Fethi Mellouli, Turkan Patiroglu, Ekrem Unal, Mehmet Akif Ozdemir, Zineb Jouhadi,[...]. J Allergy Clin Immunol 2014
102
10

An immunodeficiency disease with RAG mutations and granulomas.
Catharina Schuetz, Kirsten Huck, Sonja Gudowius, Mosaad Megahed, Oliver Feyen, Bernd Hubner, Dominik T Schneider, Burkhard Manfras, Ulrich Pannicke, Rein Willemze,[...]. N Engl J Med 2008
141
9

Comèl-Netherton syndrome defined as primary immunodeficiency.
Ellen D Renner, Dominik Hartl, Stacey Rylaarsdam, Marguerite L Young, Linda Monaco-Shawver, Gary Kleiner, M Louise Markert, E Richard Stiehm, Bernd H Belohradsky, Melissa P Upton,[...]. J Allergy Clin Immunol 2009
90
10

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
A R Gennery, M A Slatter, J Rice, L H Hoefsloot, D Barge, A McLean-Tooke, T Montgomery, J A Goodship, A D Burt, T J Flood,[...]. Clin Exp Immunol 2008
68
13

Omenn syndrome does not live by V(D)J recombination alone.
Veronica Marrella, Virginia Maina, Anna Villa. Curr Opin Allergy Clin Immunol 2011
25
36

Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients.
S M Müller, M Ege, A Pottharst, A S Schulz, K Schwarz, W Friedrich. Blood 2001
126
9

AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Patrizia Cavadini, William Vermi, Fabio Facchetti, Stefania Fontana, Seiho Nagafuchi, Evelina Mazzolari, Anna Sediva, Veronica Marrella, Anna Villa, Alain Fischer,[...]. J Clin Invest 2005
108
9

Adenosine deaminase deficiency can present with features of Omenn syndrome.
Chaim M Roifman, Junyan Zhang, Adelle Atkinson, Eyal Grunebaum, Karen Mandel. J Allergy Clin Immunol 2008
35
25

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
Yoshiyuki Minegishi, Masako Saito, Shigeru Tsuchiya, Ikuya Tsuge, Hidetoshi Takada, Toshiro Hara, Nobuaki Kawamura, Tadashi Ariga, Srdjan Pasic, Oliver Stojkovic,[...]. Nature 2007
666
9

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
S Chavanas, C Bodemer, A Rochat, D Hamel-Teillac, M Ali, A D Irvine, J L Bonafé, J Wilkinson, A Taïeb, Y Barrandon,[...]. Nat Genet 2000
546
9

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Catharina Schuetz, Benedicte Neven, Christopher C Dvorak, Sandrine Leroy, Markus J Ege, Ulrich Pannicke, Klaus Schwarz, Ansgar S Schulz, Manfred Hoenig, Monika Sparber-Sauer,[...]. Blood 2014
92
9

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Joshua D Milner, Tiphanie P Vogel, Lisa Forbes, Chi A Ma, Asbjørg Stray-Pedersen, Julie E Niemela, Jonathan J Lyons, Karin R Engelhardt, Yu Zhang, Nermina Topcagic,[...]. Blood 2015
277
9

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
Andrea M Siegel, Kelly D Stone, Glenn Cruse, Monica G Lawrence, Ana Olivera, Mi-yeon Jung, John S Barber, Alexandra F Freeman, Steven M Holland, Michelle O'Brien,[...]. J Allergy Clin Immunol 2013
72
12

A variant of SCID with specific immune responses and predominance of gamma delta T cells.
Stephan Ehl, Klaus Schwarz, Anselm Enders, Ulrich Duffner, Ulrich Pannicke, Joachim Kühr, Françoise Mascart, Annette Schmitt-Graeff, Charlotte Niemeyer, Paul Fisch. J Clin Invest 2005
104
8

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
Majed Dasouki, Kingsley C Okonkwo, Abhishek Ray, Caspian K Folmsbeel, Diana Gozales, Sevgi Keles, Jennifer M Puck, Talal Chatila. Clin Immunol 2011
44
18

Cutaneous manifestations of DOCK8 deficiency syndrome.
Emily Y Chu, Alexandra F Freeman, Huie Jing, Edward W Cowen, Joie Davis, Helen C Su, Steven M Holland, Maria L Chanco Turner. Arch Dermatol 2012
79
10


Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Jolan E Walter, Francesca Rucci, Laura Patrizi, Mike Recher, Stephan Regenass, Tiziana Paganini, Marton Keszei, Itai Pessach, Philipp A Lang, Pietro Luigi Poliani,[...]. J Exp Med 2010
66
12

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Pietro Luigi Poliani, Fabio Facchetti, Maria Ravanini, Andrew Richard Gennery, Anna Villa, Chaim M Roifman, Luigi D Notarangelo. Blood 2009
95
8

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
Capucine Picard, Christie-Ann McCarl, Alexander Papolos, Sara Khalil, Kevin Lüthy, Claire Hivroz, Francoise LeDeist, Frédéric Rieux-Laucat, Gideon Rechavi, Anjana Rao,[...]. N Engl J Med 2009
348
8

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
69
11

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Linda M Griffith, Morton J Cowan, Luigi D Notarangelo, Jennifer M Puck, Rebecca H Buckley, Fabio Candotti, Mary Ellen Conley, Thomas A Fleisher, H Bobby Gaspar, Donald B Kohn,[...]. J Allergy Clin Immunol 2009
72
11

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?
Andrew R Gennery, Mary A Slatter, Laure Grandin, Pierre Taupin, Andrew J Cant, Paul Veys, Persis J Amrolia, H Bobby Gaspar, E Graham Davies, Wilhelm Friedrich,[...]. J Allergy Clin Immunol 2010
262
8

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
Antonia Kwan, Joseph A Church, Morton J Cowan, Rajni Agarwal, Neena Kapoor, Donald B Kohn, David B Lewis, Sean A McGhee, Theodore B Moore, E Richard Stiehm,[...]. J Allergy Clin Immunol 2013
127
8


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.