An infant with erythroderma, skin scaling, chronic emesis, and intractable diarrhea

Clinical Pediatrics

Volumn 48, Issue 9, 2009, Pages 978-980

  Redding, Alan R ^a   Lew, D Betty ^a   Conley, Mary Ellen ^a   Pivnick, Eniko K ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; COTRIMOXAZOLE; CYCLOSPORIN; HYDROCORTISONE; IMMUNOGLOBULIN E; METRONIDAZOLE; PREDNISOLONE; XIPAMIDE;

ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; BACTEREMIA; CASE REPORT; CLOSTRIDIUM DIFFICILE INFECTION; DIARRHEA; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DRUG DOSE INCREASE; EOSINOPHILIA; ERYTHRODERMA; EXTERNAL OTITIS; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; IPEX SYNDROME; LOOSE FECES; MALE; METHICILLIN SENSITIVE STAPHYLOCOCCUS AUREUS; PSEUDOMONAS INFECTION; PSORIASIS; SKIN BIOPSY; STAPHYLOCOCCUS; STAPHYLOCOCCUS INFECTION; VOMITING;

CHRONIC DISEASE; COMBINED MODALITY THERAPY; DERMATITIS, EXFOLIATIVE; DIARRHEA; ENDOCRINE SYSTEM DISEASES; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; PEDIGREE; SEVERITY OF ILLNESS INDEX; SYNDROME; VOMITING;

EID: 70350507476     PISSN: 00099228     EISSN: None     Source Type: Journal    
DOI: 10.1177/0009922808323121     Document Type: Article

References (9)

1. Tanaka H., Tsugawa K., Kudo M., et al. Low-dose cyclosporine A in a patient with X-linked immune dysregulation, polyendocrinopathy and enteropathy. Eur J Pediatr. 2005; 164: 779-780.
2. Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr. 1982 ; 100: 731-737.
3. Baud O., Goulet O., Canioni D., et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med. 2001 ; 344: 1758-1762.
4. Bennett CL, Brunkow ME, Ramsdell F., et al. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA ĝ†'AAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001 ; 53: 435-439.
5. Bacchetta R., Gambineri E., Roncarolo MG Role of regulatory T cells and FOXP3 in human diseases. J Allergy Clin Immunol. 2007 ; 120: 227-237.
6. Wildin RS, Smyk-Pearson S., Filipovich AH Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2002 ; 39: 537-545.
7. Torgerson TR, Ochs HD Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol. 2007 ; 120: 744-752.
8. Rao A., Kamani N., Filipovich A., et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood. 2007 ; 109: 383-385.
9. Gambineri E., Torgerson TR, Ochs HD Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol. 2003 ; 15: 430-435.