X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis

Clinical and Experimental Rheumatology

Volumn 25, Issue 2, 2007, Pages 336-338

  Brunner, Jürgen K H ^a,c   Dockter, Gerd ^c   Rösen Wolff, Angela ^b   Roesler, Joachim ^b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^c SAARLAND UNIVERSITY   (Germany)

Author keywords

Chronic granulomatous disease; Primary immunodeficiency; Sarcoidosis

Indexed keywords

DIHYDRORHODAMINE 123; DIPEPTIDYL CARBOXYPEPTIDASE; HYDROGEN PEROXIDE; ITRACONAZOLE; LUCIGENIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; TRIMETHOPRIM;

ABDOMINAL ABSCESS; ABDOMINAL PAIN; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CERVICAL LYMPHADENOPATHY; CHILD; CHRONIC GRANULOMATOUS DISEASE; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; EPITHELIOID CELL; FEVER; GENE MUTATION; GENETIC ANALYSIS; GRANULOMA; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; LIVER ABSCESS; LYMPH NODE BIOPSY; LYMPHADENOPATHY; MALE; PRIORITY JOURNAL; SARCOIDOSIS;

CHILD; DIAGNOSIS, DIFFERENTIAL; EXONS; GENETIC DISEASES, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADP; NADPH OXIDASE; SARCOIDOSIS;

EID: 34249804812     PISSN: 0392856X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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