Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110

Clinical Immunology

Volumn 145, Issue 2, 2012, Pages 102-107

  Wang, Tiffany ^a   Ong, Peck ^a   Roscioli, Tony ^b,c,d   Cliffe, Simon T ^b   Church, Joseph A ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Immunodeficiency; Sinusoidal obstruction syndrome; Sp110; Veno occlusive disease; VODI

Indexed keywords

ANTIGEN; COTRIMOXAZOLE; HEAT SHOCK PROTEIN 110; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PROTEASOME;

ANTIBODY BLOOD LEVEL; ARTICLE; B LYMPHOCYTE; CANDIDA; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; FAMILY HISTORY; FEMALE; HETEROZYGOSITY; HUMAN; LIVER FAILURE; LIVER VEIN OBSTRUCTION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PNEUMOCYSTIS JIROVECI; PNEUMOCYSTIS PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; STREPTOCOCCUS PNEUMONIAE; T LYMPHOCYTE; TETANUS; UNITED STATES;

ANTIBODIES, BACTERIAL; CHILD, PRESCHOOL; FEMALE; HEPATIC VENO-OCCLUSIVE DISEASE; HUMANS; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; IMMUNOGLOBULINS, INTRAVENOUS; INFANT; LIVER; LUNG; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PNEUMOCYSTIS JIROVECII; PNEUMONIA, PNEUMOCYSTIS; SEVERE COMBINED IMMUNODEFICIENCY; TRIMETHOPRIM-SULFAMETHOXAZOLE COMBINATION;

EID: 84866010021     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2012.07.016     Document Type: Article

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