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WISKOTT-ALDRICH SYNDROME [2 records]

Record 1 2006-05-08

English

Subject field(s)
  • Immunology
DEF

[An] X-linked recessive syndrome is characterized clinically by the triad of eczema, thrombocytopenic purpura, and undue susceptibility to infection.

OBS

Often there is prolonged oozing from the circumcision site or bloody diarrhea during infancy. Atopic dermatitis and recurrent infections usually develop during the first year of life. Infections are caused by pneumococci and other bacteria with polysaccharide capsules, resulting in episodes of otitis media, pneumonia, meningitis, and sepsis. Later, infections with Pneumocystis carinii and the herpesviruses become more frequent.

French

Domaine(s)
  • Immunologie
DEF

Déficit immunitaire, héréditaire, de transmission récessive liée au chromosome X [...] caractérisé par l'association d'une thrombopénie, d'un eczéma, d'infections à répétition et éventuellement de manifestations auto-immunes et de lymphomes.

Spanish

Campo(s) temático(s)
  • Inmunología
Save record 1

Record 2 1996-10-17

English

Subject field(s)
  • Biochemistry
CONT

Egr-1 expression WAS protein kinase C (PKC)-dependent because staurosporine and calphostin C abrogated the urea effect, and down-regulation of PKC through chronic TPA treatment inhibited both urea-inducible Egr-1 protein expression and gene transcription.

OBS

The Journal of Clinical Investigation. April 15, 1996, Volume 97, Number 8 - abstracts. Categories. Molecular Medicine / Genetic Disorders. Infection /...

French

Domaine(s)
  • Biochimie
CONT

Par une analyse moléculaire approfondie, l'équipe de Uta Francke du Howard Hughes Medical Institute a cloné un gène directement impliqué [dans le syndrome de Wiskott-Aldrich (WAS) codant la protéine WASP (WAS protein). Des mutations ponctuelles sont observées chez trois familles atteintes de ce syndrome.

Spanish

Save record 2

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