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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]
Agammaglobulinemia 3, autosomal recessive
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. [from MONDO]
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. [from ORDO]
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