U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

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.

Agammaglobulinemia 3, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. [from MONDO]

MedGen UID:
462101
Concept ID:
C3150751
Disease or Syndrome
3.

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]

MedGen UID:
815913
Concept ID:
C3809583
Disease or Syndrome
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...