Pillole: per capire
Dermatite e IgE alte
DERMATITIS AND HYPER IgE SYNDROME
Raffaele Badolato
Clinica Pediatrica, Università di Brescia
Febbraio 2011 - pagg. 107 -109
Abstract
A case of Job syndrome is presented. Job syndrome is linked to a dominant autosomal disorder
of the gene that codifies an intracellular protein whose function is the transduction
of receptorial signals from the membrane to the nucleus. This central disorder explains the
diversity and the complexity (resistance defect against staphylococcus, skeletal or facial alterations,
IgE hyper production) of the syndrome in relation to other genetic disorders affecting
only the immune system or only the mesenchyme. The first manifestation is a resistant
dermatitis, with neonatal onset, while infections (staphylococcal, with pneumatoceles
and cold granulomas), skeletal disorders (scoliosis and others) and hypereosinophilia
with high IgE levels appear later.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
• Avery DT, Ma CS, Bryant VL, et al. STAT3 is
required for IL-21-induced secretion of IgE
from Human Naïve B cells. Blood 2008;112:
1784-93.
• Buckley RH. The hyper-IgE syndrome. Clin
Rev Allergy Immunol 2001;20:139-54. Review.
• Eberting CL, Davis J, Puck JM, Holland SM,
Turner ML. Dermatitis and the newborn rash
of hyper-IgE syndrome. Arch Dermatol 2004;
140:1119-25.
• Gennery AR, Flood TJ, Abinun M, Cant AJ.
Bone marrow transplantation does not correct
the hyper IgE syndrome. Bone Marrow
Transplant 2000;25:1303-5.
• Grimbacher B, Schäffer AA, Holland SM, et al.
Genetic linkage of hyper-IgE syndrome to chromosome
4. Am J Hum Genet 1999;65:735-44.
• Grimbcher B, Holland SM, Gallin JI, et al.
Hyper IgE syndrome with recurrent infections-
an autosomal dominant multisystem disorder.
N Engl J Med 1999;340:692-702.
• Holland SM, DeLeo FR, Houda ZE, et al.
Stat3 mutations in the Hyper-IgE Syndrome. N
Engl J Med 2007;357:1608-19.
• Itoh S, Udagawa N, Takahashi N, et al. A
critical role for interleukin-6 family-mediated
Stat3 activation in osteoblast differentiation
and bone formation. Bone 2006;39:505-12.
• Levy DE, Loomis CA. STAT3 signaling and
the hyper-IgE syndrome. N Engl J Med 2007;
357:1655-8.
• Ma CS, Chew GY, Simpson N, et al. Deficiency
of Th17 cells in hyper IgE syndrome
due to mutations in STAT3. J Exp Med 2008;
205:1551-7.
• Minegishi Y, Saito M, Tsuchiya S, et al.
Dominant-negative mutations in the DNAbinding
domain of STAT3 cause Hyper-IgE
syndrome. Nature 2007;448:1058-62.
• Minegishi Y. Hyper IgE syndrome. Curr
Opin Immunol 2009;21:487-92.
• Nester TA, Wagnon AH, Reilly WF, Spitzer
G, Kjeldsberg CR, Hill HR. Effects of allogenic
peripheral stem cell transplantation in a patient
with job syndrome of hyperimmunoglobulinemia
E and recurrent infections.
Am J Med 1998;105:162-4.
• O’Connell AC, Puck JM, Grimbacher B, et
al. Delayed eruption of permanent teeth in hyperimmunoglobulinemia
E recurrent infection
syndrome. Oral Surg Oral Med Oral
Pathol Oral Radiol Endod 2000;89:177-85.
• Ozaki K, Spolski R, Feng CG, et al. A critical
role for IL-21 in regulating immunoglobulin
production. Science 2002;298:1630-4.
• Renner ED, Rylaarsdam S, Anover-Sombke
S, et al. Novel signal transducer and activator of
transcription 3 (STAT3) mutations, reduced
TH17 cell numbers, and variability defective
STAT3 phosphorylation in Hyper IgE syndrome.
J Allergy Clin Immunol 2008;122:181-7.
• Schimke LF, Sawalle-Belohradsky J, Roesler
J, et al. Diagnostic approach to the hyper-IgE
syndromes: immunologic and clinical key
findings to differentiate hyper-IgE syndromes
from atopic dermatitis. J Allergy Clin Immunol
2010;126:611-7.e1.
• Tamassia N, Castellucci M, Rossato M, et
al. Uncovering an IL-10-dependent NF-kappaB
recruitment to the IL-1R promoter that is impaired
in STAT3 functionally defective patients.
FASEB J 2010;24:1365-75.
• Woellner C, Gertz EM, Schäffer AA, et al.
Mutations in STAT3 and diagnostic guidelines
for hyper-IgE syndrome. J Allergy Clin Immunol
2010;125:424-32.e8.
• Woellner C, Schäffer AA, Puck JM, et al.
The hyper IgE syndrome and mutations in
TYK2. Immunity 2007;26:535.
Corrispondenza: badolato@med.unibs.it