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Journal Articles

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

Elie Haddad, Brent R. Logan, Linda M. Griffith, Rebecca H. Buckley, Roberta E. Parrott, Susan E. Prockop, Trudy N. Small, Jessica Chaisson, Christopher C. Dvorak, Megan Murnane, Neena Kapoor, Hisham Abdel-Azim, Imelda C. Hanson, Caridad Martinez, Jack J. H. Bleesing, Sharat Chandra, Angela R. Smith, Matthew E. Cavanaugh, Soma Jyonouchi, Kathleen E. Sullivan, Lauri Burroughs, Suzanne Skoda-Smith, Ann E. Haight, Audrey G. Tumlin, Troy C. Quigg, Candace Taylor, Blachy J. Dávila Saldaña, Michael D. Keller, Christine M. Seroogy, Kenneth B. Desantes, Aleksandra Petrovic, Jennifer W. Leiding, David C. Shyr, Hélène Decaluwe, Pierre Teira, Alfred P. Gillio, Alan P. Knutsen, Theodore B. Moore, Morris Kletzel, John A. Craddock, Victor Aquino, Jeffrey H. Davis, Lolie C. Yu, Geoffrey D. E. Cuvelier, Jeffrey J. Bednarski, Frederick D. Goldman, Elizabeth M. Kang, Evan Shereck, Matthew H. Porteus, James A. Connelly, Thomas A. Fleisher, Harry L. Malech, William T. Shearer, Paul Szabolcs, Monica S. Thakar, Mark T. Vander Lugt, Jennifer Heimall, Ziyan Yin, Michael A. Pulsipher, Sung-Yun Pai, Donald B. Kohn, Jennifer M. Puck, Morton J. Cowan, Richard J. O'Reilly, Luigi D. Notarangelo

Blood (2018) 132 (17): 1737–1749.

https://doi.org/10.1182/blood-2018-03-840702

Published: 2018

Includes: Supplemental data

Journal Articles

Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study

Blood (2017) 130 (25): 2718–2727.

https://doi.org/10.1182/blood-2017-05-781849

Published: 2017

Includes: Supplemental data

Journal Articles

Diagnostic Challenges in the Era of Genomic Sequencing and Newborn Screening

Jennifer Puck, MD

Blood (2017) 130 (Supplement 1): SCI-30.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-30.SCI-30

Published: 2017

Journal Articles

Comparable Clinical Outcomes between Haploidentical Family Donor and Other Donor Types after Hematopoietic Stem Cell Transplantation for Rare Pediatric Rare non-Malignant Diseases

Eun Sang Rhee, MD, Hyery Kim, MD, Ho Joon Im, MD, Jae Won Yoo, MD, Sung Han Kang, MD, Kyung Nam Koh, MD, Jong Jin Seo, MD, eun Seok Choi

Blood (2017) 130 (Supplement 1): 1957.

https://doi.org/10.1182/blood.V130.Suppl_1.1957.1957

Published: 2017

Journal Articles

Engineering of Induced Pluripotent Stem Cell-Derived Hemogenic Endothelium

Jerry Lee, MPhil, MS, Ryohichi Sugimura, MD PhD, George Q Daley, MD PhD

Blood (2017) 130 (Supplement 1): 2424.

https://doi.org/10.1182/blood.V130.Suppl_1.2424.2424

Published: 2017

Journal Articles

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R. Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, Stephan Ehl

Blood (2015) 126 (14): 1658–1669.

https://doi.org/10.1182/blood-2015-03-631374

Published: 2015

Includes: Supplemental data

Journal Articles

Robust Immune Reconstitution in Children with Severe Primary Immunodeficiency after Reduced-Intensity Conditioning Hematopoietic Stem Cell Transplantation

William T. Tse, MD PhD, Jessica Ward, MSN, cPNP, Jennifer Schneiderman, MD MS, Sonali Chaudhury, MD, Ramsay Fuleihan, MD, Reggie Duerst, MD, Morris Kletzel, MD

Blood (2014) 124 (21): 3923.

https://doi.org/10.1182/blood.V124.21.3923.3923

Published: 2014

Journal Articles

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Veronica Marrella, Pietro L. Poliani, Elena Fontana, Anna Casati, Virginia Maina, Barbara Cassani, Francesca Ficara, Manuela Cominelli, Francesca Schena, Marianna Paulis, Elisabetta Traggiai, Paolo Vezzoni, Fabio Grassi, Anna Villa

Blood (2012) 120 (5): 1005–1014.

https://doi.org/10.1182/blood-2012-01-406827

Published: 2012

Includes: Supplemental data

Journal Articles

Comparison of Outcomes of Mismatched Related Stem Cell and Unrelated Cord Blood Transplants in Children with Severe T-Cell Deficiencies.

Blood (2009) 114 (22): 664.

https://doi.org/10.1182/blood.V114.22.664.664

Published: 2009

Journal Articles

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) 114 (1): 105–108.

https://doi.org/10.1182/blood-2009-03-211029

Published: 2009

Includes: Supplemental data

Journal Articles

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

Taizo Wada, Masahiro Yasui, Tomoko Toma, Yuko Nakayama, Mika Nishida, Masaki Shimizu, Michiko Okajima, Yoshihito Kasahara, Shoichi Koizumi, Masami Inoue, Keisei Kawa, Akihiro Yachie

Blood (2008) 112 (5): 1872–1875.

https://doi.org/10.1182/blood-2008-04-149708

Published: 2008

Journal Articles

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Ponpan Matangkasombut, Muriel Pichavant, Doris E. Saez, Silvia Giliani, Evelina Mazzolari, Andrea Finocchi, Anna Villa, Cristina Sobacchi, Patricia Cortes, Dale T. Umetsu, Luigi D. Notarangelo

Blood (2008) 111 (1): 271–274.

https://doi.org/10.1182/blood-2007-06-096487

Published: 2008

Includes: Supplemental data

Journal Articles

Omenn syndrome: more than a disorder of RAG1 or RAG2 genes

Marina Cavazzana-Calvo, Jean-Pierre de Villartay

Blood (2005) 105 (11): 4156.

https://doi.org/10.1182/blood-2005-03-1166

Published: 2005

Journal Articles

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) 105 (11): 4179–4186.

https://doi.org/10.1182/blood-2004-12-4861

Published: 2005

Includes: Supplemental data

Journal Articles

Oligoclonal Expansion of Revertant T Cells Leads to Omenn Syndrome in a Patient with RAG1-Deficient Severe Combined Immunodeficiency.

Taizo Wada, MD, Hiroyuki Okamoto, MD, Tomoko Toma, MD, Yoshihito Kasahara, MD, Shoichi Koizumi, MD, Masahiko Kato, MD, Akihiro Yachie, MD

Blood (2004) 104 (11): 1333.

https://doi.org/10.1182/blood.V104.11.1333.1333

Published: 2004

Journal Articles

Identification of anti–herpes simplex virus antibody–producing B cells in a patient with an atypical RAG1 immunodeficiency

Satoru Kumaki, Anna Villa, Hiroshi Asada, Shin Kawai, Yoshiyuki Ohashi, Miyoko Takahashi, Ikuko Hakozaki, Etsuko Nitanai, Masayoshi Minegishi, Shigeru Tsuchiya

Blood (2001) 98 (5): 1464–1468.

https://doi.org/10.1182/blood.V98.5.1464

Published: 2001

Journal Articles

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome

Barbara Corneo, Despina Moshous, Tayfun Güngör, Nicolas Wulffraat, Pierre Philippet, Françoise Le Deist, Alain Fischer, Jean-Pierre de Villartay

Blood (2001) 97 (9): 2772–2776.

https://doi.org/10.1182/blood.V97.9.2772

Published: 2001

Journal Articles

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Blood (2001) 97 (1): 81–88.

https://doi.org/10.1182/blood.V97.1.81

Published: 2001

Journal Articles

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

Simona Signorini, Luisa Imberti, Silvia Pirovano, Anna Villa, Fabio Facchetti, Marco Ungari, Fabio Bozzi, Alberto Albertini, Alberto G. Ugazio, Paolo Vezzoni, Luigi D. Notarangelo

Blood (1999) 94 (10): 3468–3478.

https://doi.org/10.1182/blood.V94.10.3468.422k34_3468_3478

Published: 1999

Journal Articles

T-Cell Receptor Analysis in Omenn’s Syndrome: Evidence for Defects in Gene Rearrangement and Assembly

Edward G. Brooks, Alexandra H. Filipovich, John W. Padgett, Robert Mamlock, Randall M. Goldblum

Blood (1999) 93 (1): 242–250.

https://doi.org/10.1182/blood.V93.1.242

Published: 1999

NARROW

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study

Diagnostic Challenges in the Era of Genomic Sequencing and Newborn Screening

Comparable Clinical Outcomes between Haploidentical Family Donor and Other Donor Types after Hematopoietic Stem Cell Transplantation for Rare Pediatric Rare non-Malignant Diseases

Engineering of Induced Pluripotent Stem Cell-Derived Hemogenic Endothelium

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Robust Immune Reconstitution in Children with Severe Primary Immunodeficiency after Reduced-Intensity Conditioning Hematopoietic Stem Cell Transplantation

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Comparison of Outcomes of Mismatched Related Stem Cell and Unrelated Cord Blood Transplants in Children with Severe T-Cell Deficiencies.

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Omenn syndrome: more than a disorder of RAG1 or RAG2 genes

Omenn syndrome due to ARTEMIS mutations

Oligoclonal Expansion of Revertant T Cells Leads to Omenn Syndrome in a Patient with RAG1-Deficient Severe Combined Immunodeficiency.

Identification of anti–herpes simplex virus antibody–producing B cells in a patient with an atypical RAG1 immunodeficiency

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

T-Cell Receptor Analysis in Omenn’s Syndrome: Evidence for Defects in Gene Rearrangement and Assembly

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American Society of Hematology

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ASH Publications

American Society of Hematology

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