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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Synonyms
Autoimmune lymphoproliferative syndrome 5; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; Autoimmune lymphoproliferative syndrome type V; CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION; IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) is an autosomal dominant complex immune disorder with highly variable presentation and clinical manifestations. Prominent features include recurrent infections often associated with hypogammaglobulinemia, autoimmune features such as autoimmune cytopenias, and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Laboratory studies often show lymphopenia and abnormal T and B cell subsets. The variable features are a result of impaired function of Treg cells, which play a role in immune homeostasis (summary by Kuehn et al., 2014; Schwab et al., 2018, and Lopez-Nevado et al., 2021). The disorder shows overlapping features with autoimmune lymphoproliferative syndrome (ALPS); for a general description and a discussion of genetic heterogeneity of ALPS, see 601859. [from OMIM]

Available tests

26 tests are in the database for this condition.

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Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12, CTLA4
    Summary: cytotoxic T-lymphocyte associated protein 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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