CD45-deficient severe combined immunodeficiency caused by uniparental disomy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 26, 2012, Pages 10456-10461

  Roberts, Joseph L ^a   Buckley, Rebecca H ^a   Luoc, Biao ^b   Pei, Jianming ^b   Lapidus, Alla ^b   Peri, Suraj ^b   Wei, Qiong ^b   Shin, Jinwook ^a   Parrott, Roberta E ^a   Dunbrack, Roland L ^b   Testad, Joseph R ^b   Zhong, Xiao Ping ^a   Wiest, David L ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b FOX CHASE CANCER CENTER   (United States)

Author keywords

Signaling; T cell receptor; T lymphocyte

Indexed keywords

CD45 ANTIGEN; CIDOFOVIR; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; METRONIDAZOLE; PHYTOHEMAGGLUTININ; PROTEIN TYROSINE PHOSPHATASE;

ALLELE; ARTICLE; AXILLARY LYMPH NODE; BONE MARROW BIOPSY; BONE MARROW TRANSPLANTATION; CASE REPORT; CHROMOSOME 1; CHROMOSOME SIZE; CLOSTRIDIUM DIFFICILE INFECTION; COLONOSCOPY; CONTROLLED STUDY; DISEASE SEVERITY; ECTODERM; EOSINOPHILIA; EXOME; FAILURE TO THRIVE; FECES CULTURE; FEVER; FLOW CYTOMETRY; GASTROESOPHAGEAL REFLUX; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN ADENOVIRUS INFECTION; HUMAN CELL; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; INFANT; KARYOTYPING; LEUKOCYTOSIS; LYMPH NODE BIOPSY; LYMPHADENITIS; LYMPHADENOPATHY; MALE; MESODERM; MOTHER; NUCLEOTIDE SEQUENCE; PANCYTOPENIA; PNEUMOCYSTIS PNEUMONIA; PRIORITY JOURNAL; PROTEIN MICROARRAY; SEVERE COMBINED IMMUNODEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; UNIPARENTAL DISOMY;

EID: 84862988977     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1202249109     Document Type: Article

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