Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 101, Issue 3, 2016, Pages 898-904

  Schreiner, Felix ^a   Plamper, Michaela ^a   Dueker, Gesche ^b   Schoenberger, Stefan ^a   Gámez Díaz, Laura ^c   Grimbacher, Bodo ^c   Hilger, Alina C ^a   Gohlke, Bettina ^a   Reutter, Heiko ^a   Woelfle, Joachim ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Pediatric Gastroenterology and Hepatology   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; CD4 ANTIGEN; CELL PROTEIN; CIDOFOVIR; GLUCOCORTICOID; IMMUNOGLOBULIN G; INSULIN ASPART; INTERLEUKIN 2 RECEPTOR ALPHA; LIPOPOLYSACCHARIDE RESPONSIVE BEIGE LIKE ANCHOR PROTEIN; MYCOPHENOLATE MOFETIL; PHYTOHEMAGGLUTININ; RAPAMYCIN; STEROID; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG; VALGANCICLOVIR; LRBA PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; CASE REPORT; CELL POPULATION; CELL STIMULATION; CHILD; CHRONIC DISEASE; CHRONIC INFLAMMATION; CHRONIC RESTRICTIVE LUNG DISEASE; CONSANGUINEOUS MARRIAGE; CONTINUOUS INFUSION; CYTOMEGALOVIRUS INFECTION; DISEASE SEVERITY; DRUG BLOOD LEVEL; DRUG MEGADOSE; ELECTROLYTE DISTURBANCE; ENTEROPATHY; EXOME; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GROWTH HORMONE DEFICIENCY; HERPES VIRUS INFECTION; HOMOZYGOTE; HOSPITALIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DYSREGULATION; IMMUNOASSAY; IMMUNOGLOBULIN DEFICIENCY; INFANCY; INSULIN DEPENDENT DIABETES MELLITUS; LIBYAN; LIPOPOLYSACCHARIDE RESPONSIVE BEIGE LIKE ANCHOR GENE; LOW DRUG DOSE; LUNG DISEASE; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PANCREAS ISLET BETA CELL; PATIENT COMPLIANCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SHORT STATURE; SIBLING; BODY HEIGHT; GENETICS; GROWTH DISORDER; IMMUNOLOGY; MUTATION; T LYMPHOCYTE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; FEMALE; GROWTH DISORDERS; HUMANS; MALE; MUTATION; T-LYMPHOCYTES;

EID: 84960903848     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-3382     Document Type: Article

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