The expanding spectrum of the autoimmune lymphoproliferative syndromes.
OBJECTIVE
Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders.


RESULTS
The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in a gene encoding a protein kinase C (PRKCD) were discovered to cause a syndrome of lymphoproliferation, autoimmunity and natural killer cell defect.


CONCLUSIONS
The recent discoveries shed light on the molecular pathways governing lymphocyte death, proliferation and immune tolerance in humans.
Instituto de Medicina Integral Prof. Fernando Figueira - IMIP.
João Bosco
JB
Oliveira
D017209:Apoptosis / Q000235:genetics / Q000276:immunology*; D056735:Autoimmune Lymphoproliferative Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics; D049109:Cell Proliferation; D053200:Fas-Associated Death Domain Protein / Q000276:immunology; D005260:Female; D011905:Genes, ras / Q000235:genetics / Q000276:immunology; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics / Q000276:immunology*; D007249:Inflammation / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000276:immunology; D051745:Protein Kinase C-delta / Q000276:immunology; D015398:Signal Transduction / Q000235:genetics / Q000276:immunology
C505533:FADD protein, human; D053200:Fas-Associated Death Domain Protein; C497258:PRKCD protein, human; D051745:Protein Kinase C-delta