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1.

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. [from OMIM]

MedGen UID:
816258
Concept ID:
C3809928
Disease or Syndrome
2.

Erythematous macule

A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. [from HPO]

MedGen UID:
1390597
Concept ID:
C2228270
Finding

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