Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever) - Different faces with separate treatments: Two cases and review of the literature

Turkish Journal of Pediatrics

Volumn 54, Issue 6, 2012, Pages 641-644

  Gençpinar, Pinar ^a   Makay, Balahan B ^a   Gattorno, Marco ^b   Caroli, Francesco ^b   Ünsal, Erbil ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

Hyperimmunoglobulinemia D syndrome; Mevalonate kinase deficiency

Indexed keywords

ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; CEFTRIAXONE; ETANERCEPT; HEMOGLOBIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MEVALONATE KINASE; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; ANEMIA; ARTHRITIS; ARTICLE; BLOODY DIARRHEA; CASE REPORT; CERVICAL LYMPHADENOPATHY; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE DURATION; DRUG MEGADOSE; DRUG SUBSTITUTION; DRUG TOLERABILITY; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; ERYTHROCYTE SEDIMENTATION RATE; FAMILIAL MEDITERRANEAN FEVER; FAMILY HISTORY; FEMALE; GASTROENTERITIS; GENE; GENE MUTATION; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; INJECTION SITE PAIN; MALE; MEDICAL HISTORY; MEFV GENE; MEVALONATE KINASE GENE; MUTATIONAL ANALYSIS; ONSET AGE; PRESCHOOL CHILD; RECURRENT DISEASE; SCHOOL CHILD; SINGLE DRUG DOSE; SPLENOMEGALY; UPPER RESPIRATORY TRACT INFECTION;

CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GLUCOCORTICOIDS; HUMANS; IMMUNOSUPPRESSIVE AGENTS; MALE; MEVALONATE KINASE DEFICIENCY; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REMISSION INDUCTION;

EID: 84876070702     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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