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Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Bosticardo, Marita; Yamazaki, Yasuhiro; Cowan, Jennifer; Giardino, Giuliana; Corsino, Cristina; Scalia, Giulia; Prencipe, Rosaria; Ruffner, Melanie; Hill, David A; Sakovich, Inga; Yemialyanava, Irma; Tam, Jonathan S; Padem, Nurcicek; Elder, Melissa E; Sleasman, John W; Perez, Elena; Niebur, Hana; Seroogy, Christine M; Sharapova, Svetlana; Gebbia, Jennifer; Kleiner, Gary Ira; Peake, Jane; Abbott, Jordan K; Gelfand, Erwin W; Crestani, Elena; Biggs, Catherine; Butte, Manish J; Hartog, Nicholas; Hayward, Anthony; Chen, Karin; Heimall, Jennifer; Seeborg, Filiz; Bartnikas, Lisa M; Cooper, Megan A; Pignata, Claudio; Bhandoola, Avinash; Notarangelo, Luigi D.
Afiliación
  • Bosticardo M; Laboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
  • Yamazaki Y; Laboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
  • Cowan J; Laboratory of Genome Integrity, CCR, NCI, NIH, Bethesda, MD 20892, USA.
  • Giardino G; Department of Translational Medical Sciences Federico II University, Naples 80138, Italy.
  • Corsino C; Laboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
  • Scalia G; Laboratory of Clinical research and Advanced Diagnostics, CEINGE Biotecnologie Avanzate, Naples 80131, Italy.
  • Prencipe R; Department of Translational Medical Sciences Federico II University, Naples 80138, Italy.
  • Ruffner M; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
  • Hill DA; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
  • Sakovich I; Immunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
  • Yemialyanava I; Immunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
  • Tam JS; Division of Clinical Immunology and Allergy, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
  • Padem N; Division of Allergy and Immunology, Lurie Children's Hospital, Chicago, IL 60611, USA.
  • Elder ME; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA.
  • Sleasman JW; Division of Allergy, Immunology and Pulmonary Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27705, USA.
  • Perez E; Allergy Associates of the Palm Beaches, North Palm Beach, FL 33408, USA.
  • Niebur H; Division of Pediatric Allergy and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
  • Seroogy CM; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
  • Sharapova S; Immunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
  • Gebbia J; Department of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Kleiner GI; Department of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Peake J; Division of Paediatric Immunology and Allergy, Lady Cilento Children's Hospital, University of Queensland School of Medicine, South Brisbane, QLD 4101, Australia.
  • Abbott JK; Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO 80206, USA.
  • Gelfand EW; Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO 80206, USA.
  • Crestani E; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Biggs C; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC V6H 0B3, Canada.
  • Butte MJ; Division of Allergy, Immunology and Rheumatology, University of California at Los Angeles, Los Angeles, CA 90095, USA.
  • Hartog N; Spectrum Health Allergy and Immunology, Grand Rapids, MI 49525, USA.
  • Hayward A; Division of Allergy and Immunology, Department of Pediatrics, Brown University and Rhode Island Hospital, Providence, RI 02905, USA.
  • Chen K; Division of Allergy and Immunology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
  • Heimall J; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
  • Seeborg F; Section of Allergy, Immunology and Rheumatology & Center for Human Immunobiology, Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA.
  • Bartnikas LM; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Cooper MA; Department of Pediatrics, Division of Rheumatology, Washington University in St. Louis, MO 63110, USA.
  • Pignata C; Department of Translational Medical Sciences Federico II University, Naples 80138, Italy.
  • Bhandoola A; Laboratory of Genome Integrity, CCR, NCI, NIH, Bethesda, MD 20892, USA.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA. Electronic address: luigi.notarangelo2@nih.gov.
Am J Hum Genet ; 105(3): 549-561, 2019 09 05.
Article en En | MEDLINE | ID: mdl-31447097
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Timo / Linfocitos T / Factores de Transcripción Forkhead / Heterocigoto / Linfopenia Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Animals / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Timo / Linfocitos T / Factores de Transcripción Forkhead / Heterocigoto / Linfopenia Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Animals / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos