Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease

Fetal and Pediatric Pathology

Volumn 23, Issue 1, 2004, Pages 29-37

  Gilbert Barness, Enid ^a   Fox, Terry ^a   Morrow, Grant ^b   Luquette, Mark ^b   Pomerance, Herbert H ^a  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MERCAPTOPURINE; METRONIDAZOLE; PREDNISONE; RANITIDINE;

ABDOMINAL PAIN; ADULT; ANAMNESIS; APPETITE DISORDER; ASPERGILLOSIS; CASE REPORT; CHOLECYSTECTOMY; CHRONIC GRANULOMATOUS DISEASE; COLONOSCOPY; COMPUTER ASSISTED TOMOGRAPHY; CROHN DISEASE; DIARRHEA; ECHOGRAPHY; FEMALE; FEVER; GASTROINTESTINAL BIOPSY; GASTROINTESTINAL ENDOSCOPY; HUMAN; HUMAN TISSUE; LABORATORY TEST; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SUPERINFECTION; THORAX RADIOGRAPHY; VOMITING; WILLIAMS BEUREN SYNDROME; AORTA STENOSIS; COLON BIOPSY; CONFERENCE PAPER; DISEASE ASSOCIATION; HEART VENTRICLE SEPTUM DEFECT; PULMONARY VALVE STENOSIS;

ADULT; CROHN DISEASE; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFECTION; WILLIAMS SYNDROME;

EID: 20844461334     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/15227950490423016     Document Type: Review

References (10)

1. Roos D, Curnutte JT. Chronic granulomatous disease In Ochs HD, Smith CIE, Puck JM, ed. Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. (New York: Oxford University Press, 1999).
2. Berendes H, Bridges RA, Good RA. Fatal granulomatous disease of childhood. Minn Med 1957;40:309-312.
3. Landing BH, Shrkey HS. A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Ped 1957;20:431-438.
4. Nemet K, Fekete G, Schuler D, Kiss E, Meszner Z, Krivan G, Kardos G, Galantai I, Poder G, Kalmar Am de Boer M, Roos D. Chronic granulotamous disease (CGD): Dysfunction of the neutrophil granulocyte NADPH-oxidase enzyme system. Orv Hetil 1997;16:138(7):397-401.
5. Emmendorffer A, Nakamura M, Rothe G, Spiekemann K, Lohmann-Matthes M-L, Roesler J. Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions. Cytometry 1994;18:147-155.
6. Roos D. The genetic basis of chronic granulomatous disease. Immunol Rev. 1994;138:131-157.
7. Malech HL, Nauseef WM. Primary inherited defects in neutrophil function: Etiology and treatment. Sem Hematol 1997;34(4):279-290.
8. Schibler K. Leukocyte development and disorders during the neonatal period. In Christensen RD. Hematologic Problems of the Neonate. (Philadelphia: WB Saunders Co, 2000).
9. Sekhsaria S, Gallin JI, Linton GF, et al. Peripheral blood progenitors a target for genetic correction of p47 phox-deficient chronic granulomatous disease. Proc Natl Acad Sci USA 1993;90:7446.
10. Kume A, Dinauer MC. Retrovirus-mediated reconstitution of respiratory burst activity in X-linked chronic granulomatous disease cells. Blood 1994;84:3311.