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注意：仅列出部分参考文献，下载原文获取全部文献信息。Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference Abstracts
Alan Huber et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2021)
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome
Joshua D. Bernstock et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
PAX1 is essential for development and function of the human thymus
Yasuhiro Yamazaki et al.
SCIENCE IMMUNOLOGY (2020)
Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency
Panojot Bifsha et al.
BLOOD ADVANCES (2020)
Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia
Marita Bosticardo et al.
BLOOD ADVANCES (2020)
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017
George S. Amatuni et al.
PEDIATRICS (2019)
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
Marita Bosticardo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Survey of Infection Control Precautions for Patients with Severe Combined Immune Deficiency
Brieanne A. Dergousoff et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2019)
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans
Qiumei Du et al.
JOURNAL OF CLINICAL INVESTIGATION (2019)
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome
Erica Hasten et al.
PLOS GENETICS (2019)
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
Mirjam van der Burg et al.
FRONTIERS IN PEDIATRICS (2019)
Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID)
Elie Haddad et al.
FRONTIERS IN PEDIATRICS (2019)
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
Siddaramappa Jagdish Patil et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish
Zhi-Zhi Liu et al.
AMERICAN JOURNAL OF PATHOLOGY (2018)
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu et al.
HUMAN MOLECULAR GENETICS (2018)
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
Akella Radha Rama Devi et al.
GENE (2017)
Thymus transplantation for complete DiGeorge syndrome: European experience
E. Graham Davies et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
Fetal thymus size in pregnant women with diabetic diseases
Ria Doernemann et al.
JOURNAL OF PERINATAL MEDICINE (2017)
Generation of mature T cells from human hematopoietic stem and progenitor cells in artificial thymic organoids
Christopher S. Seet et al.
NATURE METHODS (2017)
FOXN1 deficient nude severe combined immunodeficiency
Ioanna A. Rota et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
I. Paganini et al.
CLINICAL GENETICS (2017)
Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells
Saulius Zuklys et al.
NATURE IMMUNOLOGY (2016)
Severe combined immunodeficiency: recent developments and guidance on clinical management
Lizzy Rivers et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2015)
CHARGE syndrome: a review of the immunological aspects
Monica T. Y. Wong et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
22q11.2 deletion syndrome
Donna M. McDonald-McGinn et al.
NATURE REVIEWS DISEASE PRIMERS (2015)
A novel mutation in FOXN1 resulting in SCID: A case report and literature review
Janet Chou et al.
CLINICAL IMMUNOLOGY (2014)
Ectopic TBX1 suppresses thymic epithelial cell differentiation and proliferation during thymus organogenesis
Kaitlin A. G. Reeh et al.
DEVELOPMENT (2014)
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts
William T. Shearer et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Live Vaccine Use and Safety in DiGeorge Syndrome
Annika M. Hofstetter et al.
PEDIATRICS (2014)
Retinoids and pregnancy: an update
Hannah Browne et al.
OBSTETRICIAN & GYNAECOLOGIST (2014)
CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): A case
Kristian Assing et al.
HUMAN IMMUNOLOGY (2013)
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome
Quang Van Vu et al.
PEDIATRICS INTERNATIONAL (2013)
How to find your way through the thymus: a practical guide for aspiring T cells
Ivan Dzhagalov et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2012)
Thymic epithelial cells: antigen presenting cells that regulate T cell repertoire and tolerance development
Konstantina Alexandropoulos et al.
IMMUNOLOGIC RESEARCH (2012)
Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Adriana S. Albuquerque et al.
PLOS ONE (2012)
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
M. Louise Markert et al.
BLOOD (2011)
Mechanisms of thymus organogenesis and morphogenesis
Julie Gordon et al.
DEVELOPMENT (2011)
Genotype, phenotype, and outcomes of nine patients with T-B plus NK plus SCID
Grace P. Yu et al.
PEDIATRIC TRANSPLANTATION (2011)
Foxn1 Regulates Lineage Progression in Cortical and Medullary Thymic Epithelial Cells But Is Dispensable for Medullary Sublineage Divergence
Craig S. Nowell et al.
PLOS GENETICS (2011)
Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly
Ales Janda et al.
BLOOD (2010)
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism
Hirosuke Inoue et al.
EUROPEAN JOURNAL OF PEDIATRICS (2010)
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 et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2010)
Postnatal Tissue-specific Disruption of Transcription Factor FoxN1 Triggers Acute Thymic Atrophy
Lili Cheng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH
Marios Kaliakatsos et al.
JOURNAL OF HUMAN GENETICS (2010)
T-Cell Immunodeficiency in CHARGE syndrome
Charu Chopra et al.
ACTA PAEDIATRICA (2009)
Thymus transplantation in complete DiGeorge anomaly
M. Louise Markert et al.
IMMUNOLOGIC RESEARCH (2009)
Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management
Linda M. Griffith et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
Victoria Randall et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Congenital T Cell Deficiency in a Patient with CHARGE Syndrome
Julie Hoover-Fong et al.
JOURNAL OF PEDIATRICS (2009)
DiGeorge Anomaly in the Absence of Chromosome 22q11.2 Deletion
Alan F. Rope et al.
JOURNAL OF PEDIATRICS (2009)
CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features
Soma Jyonouchi et al.
PEDIATRICS (2009)
Mutations in CHD7 in patients with CHARGE syndrome cause T-B plus natural killer cell plus severe combined immune deficiency and may cause Omenn-like syndrome
A. R. Gennery et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2008)
The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study
Maria Angelica Selim et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2008)
Use of allograft biopsies to assess thymopoiesis after thymus transplantation
M. Louise Markert et al.
JOURNAL OF IMMUNOLOGY (2008)
Complete DiGeorge syndrome associated with CHD7 mutation
Madhurima Sanka et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
Immunological abnormalities in CHARGE syndrome
Karin Writzl et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Thymic extension in the superior mediastinum in patients with thymic hyperplasia:: Potential cause of false-positive findings on 18F-FDG PET/CT
Clare S. Smith et al.
AMERICAN JOURNAL OF ROENTGENOLOGY (2007)
Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome
Ales Janda et al.
PEDIATRIC TRANSPLANTATION (2007)
Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants
M. Louise Markert et al.
BLOOD (2007)
CHARGE syndrome:: the phenotypic spectrum of mutations in the CHD7 gene
MCJ Jongmans et al.
JOURNAL OF MEDICAL GENETICS (2006)
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
SR Lalani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion
HS Xu et al.
DEVELOPMENT (2005)
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXM1 (WHN) bone
L Auricchio et al.
ARCHIVES OF DERMATOLOGY (2005)
Retinoic acid down-regulates Tbx1 expression in vivo and in vitro
C Roberts et al.
DEVELOPMENTAL DYNAMICS (2005)
An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study
KA Issekutz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population
M Adriani et al.
ANNALS OF HUMAN GENETICS (2004)
Complete DiGeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases
ML Markert et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2004)
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
J Liao et al.
HUMAN MOLECULAR GENETICS (2004)
Abnormalities of caudal pharyngeal pouch development in Pbx1 knockout mice mimic loss of Hox3 paralogs
NR Manley et al.
DEVELOPMENTAL BIOLOGY (2004)
Thymic transplantation for complete DiGeorge syndrome: Medical and surgical considerations
HE Rice et al.
JOURNAL OF PEDIATRIC SURGERY (2004)
Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
ML Markert et al.
BLOOD (2004)
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
EE Perez et al.
PEDIATRICS (2003)
Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients
ML Markert et al.
BLOOD (2003)
Long-term assessment of T-cell populations in DiGeorge syndrome
J Chinen et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2003)
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence:: A case-based and case-control approach
R Wang et al.
JOURNAL OF PEDIATRICS (2002)
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
F Vitelli et al.
HUMAN MOLECULAR GENETICS (2002)
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
EA Lindsay et al.
NATURE (2001)
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
LA Jerome et al.
NATURE GENETICS (2001)
An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly
JG Ocejo-Vinyals et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2000)
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