Human Phenotype Ontology 
Grandparent Node:
Abnormality of the immune system (HP:0002715)help
Parent Node:
Abnormality of immune system physiology (HP:0010978)help
..Starting node
Immune dysregulation (HP:0002958)help
Term ID: 2958
Name: Immune dysregulation
Synonym: Immune dysregulation; Unregulated immune response
Definition: Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.
Reference: HP:0002958
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormal MHC II surface expression (HP:0031389) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmunodeficiency (HP:0002721) help
..expandImmunologic hypersensitivity (HP:0100326) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) help
..expandSepsis (HP:0100806) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002958HP:0002958Immune dysregulation0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0002958HP:0002958Immune dysregulation0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0002958HP:0002958Immune dysregulation0LAT CL E G H2704018874OMIM:617514Immunodeficiency 52.2
HP:0002958HP:0002958Immune dysregulation0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency.46
HP:0002958HP:0002958Immune dysregulation0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated.21
HP:0002958HP:0002958Immune dysregulation0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent58
HP:0002958HP:0002958Immune dysregulation0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0002958HP:0002958Immune dysregulation0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C.89
HP:0002958HP:0002958Immune dysregulation0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent85
HP:0002958HP:0002958Immune dysregulation0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent70
HP:0002958HP:0002958Immune dysregulation0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0002958HP:0002958Immune dysregulation0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent116


Diseases (8) :OMIM:607944 OMIM:304790 OMIM:617514 OMIM:614963 OMIM:614878 ORPHA:540 ORPHA:391487 OMIM:614162

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.