A red baby should not be taken too lightly

Acta Paediatrica, International Journal of Paediatrics

Volumn 101, Issue 12, 2012, Pages

  Faletra, Flavio ^a   Bruno, Irene ^a   Berti, Irene ^a   Pastore, Serena ^a   Pirrone, Angela ^a   Tommasini, Alberto ^a  

^a UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Dermatological features; FOXP3; IKK gamma; Primary Immunodeficiency Diseases (PID); RAG1; RAG2; SPINK5

Indexed keywords

CYCLOSPORIN; IMMUNOGLOBULIN; RAG1 PROTEIN; RAG2 PROTEIN; STEROID; TRANSCRIPTION FACTOR FOXP3;

ADULT; ALOPECIA; B LYMPHOCYTE; CASE REPORT; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ECTODERMAL DYSPLASIA; ENTERITIS; ERYTHRODERMA; FEMALE; GENE MUTATION; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNE DEFICIENCY; INFANT; IPEX SYNDROME; MALE; MILK ALLERGY; NATURAL KILLER CELL; NETHERTON DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; STEROID THERAPY; T LYMPHOCYTE;

CHILD, PRESCHOOL; DERMATITIS; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; NETHERTON SYNDROME; SEVERE COMBINED IMMUNODEFICIENCY; SKIN;

EID: 84869082454     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/apa.12018     Document Type: Review

References (20)

1. Ming JE, Stiehm ER, Graham JM Jr,. Syndromes associated with immunodeficiency. Adv Pediatr 1999; 46: 271-351.
2. Glover MT, Atherton DJ, Levinsky RJ,. Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. Pediatrics 1988; 81: 66-72.
3. Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M,. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 2003; 88: 340-1.
4. Uzel G,. The range of defects associated with nuclear factor kappaB essential modulator. Curr Opin Allergy Clin Immunol 2005; 5: 513-8.
5. Cheng LE, Kanwar B, Tcheurekdjian H, Grenert JP, Muskat M, Heyman MB, et al., Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol 2009; 132: 124-31.
6. Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD,. Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol 1999; 19: 87-97.
7. Marrella V, Maina V, Villa A,. Omenn syndrome does not live by V(D)J recombination alone. Curr Opin Allergy Clin Immunol 2011; 11: 525-31.
8. Al-Herz W, Nanda A,. Skin manifestations in primary immunodeficient children. Pediatr Dermatol 2011; 28: 494-501.
9. Taddio A, Faleschini E, Valencic E, Granzotto M, Tommasini A, Lepore L, et al., Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy. Eur J Pediatr 2007; 166: 1195-7.
10. 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: 430-5.
11. Zhan H, Sinclair J, Adams S, Cale CM, Murch S, Perroni L, et al., Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Pediatrics 2008; 121: e998-1002.
12. Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D,. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet 2012; 57: 311-5.
13. Paller AS,. Genetic immunodeficiency disorders. Clin Dermatol 2005; 23: 68-77.
14. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, et al., Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 141-2.
15. Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, et al., Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 2008; 122: 1105-12 e1.
16. Amerio P, Di Rollo D, Carbone A, Auriemma M, Marra ME, De Remigis P, et al., Polyglandular autoimmune diseases in a dermatological clinical setting: vitiligo-associated autoimmune diseases. Eur J Dermatol 2010; 20: 354-8.
17. Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al., Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol 2003; 112: 973-80.
18. McFarland RD, Douek DC, Koup RA, Picker LJ,. Identification of a human recent thymic emigrant phenotype. Proc Nat Acad Sci USA 2000; 97: 4215-20.
19. Orange JS, Stone KD, Turvey SE, Krzewski K,. The Wiskott-Aldrich syndrome. Cell Mol Life Sci 2004; 61: 2361-85.
20. Orange JS, Levy O, Geha RS,. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 2005; 203: 21-37.