IPEX is a X-inked fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM.304930).

Synopsis

 dysimmune enteropathy (autoimmune enteropathy)

• total or subtotal intestinal villous atrophy
• ileus and secretory diarrhea (intractable diarhhea)
• mucosal chronic inflammation
• failure to thrive

 atopy

• eczema

 severe recurrent infections

• abcesses
• fungal infections

 variable autoimmune disorders

• autoimmune polyendocrinopathy
  • autoimmunediabetes with absent islet cells (insulin-dependent diabetes mellitus or type I diabetes)
  • hypothyroidism

• autoimmune hemolytic anemia
• autoimmune thrombocytopenia (idiopathic thrombopenic purpura)
• immune dysregulation
  • possible T-cell activation

• autoantibodies

 lymphadenopathy
 death usually occurs in infancy or childhood

Etiology

 mutation in the FOXP3 of the gene (#11137992#) at Xp11.23-q13.3

Mouse model

 scurfy mice (Foxp3 mutation)

See also

 Immunodeficiencies

• primary immunodeficiencies
  • X-linked immune syndromes

References

 Bennett CL, Ochs HD. IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr. 2001 Dec;13(6):533-8. PMID: #11753102#

 Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001 Jan;27(1):20-1. PMID: #11137993#

 Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001 Jan;27(1):18-20. PMID: #11137992#