Term ID:
5390
Name:
Recurrent opportunistic infections
Synonym:
Frequent opportunistic infections
Definition:
Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
Comments:
Reference:
HP:0005390
Genes and Diseases: Child Nodes: Sister Nodes: ..Failure to thrive secondary to recurrent infections (HP:0008866) ..Recurrent abscess formation (HP:0002722) ..Recurrent bacterial infections (HP:0002718) ..Recurrent ear infections (HP:0410018) ..Recurrent fungal infections (HP:0002841) ..Recurrent infection of the gastrointestinal tract (HP:0004798) ..Recurrent infections in infancy and early childhood (HP:0005437) ..Recurrent infections of the middle ear (HP:0040268) ..Recurrent otitis media (HP:0000403) ..Recurrent parasitic infections (HP:0030885) ..Recurrent protozoan infections (HP:0005386) ..Recurrent respiratory infections (HP:0002205) ..Recurrent urinary tract infections (HP:0000010) ..Recurrent viral infections (HP:0004429) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0005390 HP:0005390 Recurrent opportunistic infections 0 ADA CL E G H 100 186 ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0040282 - Frequent 75 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 DCLRE1C CL E G H 64421 17642 ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0040282 - Frequent 94 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 IL2RG CL E G H 3561 6010 ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0040282 - Frequent 48 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 IL7R CL E G H 3575 6024 OMIM:608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive . 94 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 JAK3 CL E G H 3718 6193 ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0040282 - Frequent 140 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 NHP2 CL E G H 55651 14377 OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2 27 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 PNP CL E G H 4860 7892 OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency . 52 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 RAG1 CL E G H 5896 9831 OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive . 127 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 RAG2 CL E G H 5897 9832 OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive . 50 HP:0005390 HP:0005390 Recurrent opportunistic infections 0 ZAP70 CL E G H 7535 12858 ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0040281 - Very frequent 46
Genes (10) :ADA DCLRE1C IL2RG IL7R JAK3 NHP2 PNP RAG1 RAG2 ZAP70 Diseases (9) :ORPHA:277 ORPHA:275 ORPHA:276 OMIM:608971 ORPHA:35078 OMIM:613987 OMIM:613179 OMIM:601457 ORPHA:911
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.