FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary immunodeficiency disease ID (Ontology) DOID:612 (Human Disease)
Definition An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
Also Known As "hypoimmunity" ; "immune deficiency disorder" ; "immunodeficiency syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 primary immunodeficiency disease       2      1
 model of | primary immunodeficiency disease       2       --
Spanning Tree (Parents/Children)
Only view relationship:
  disease of anatomical entity
   |__immune system disease
       |__primary immunodeficiency disease  147 rec.
           |__ankylosing spondylitis 6 rec.
           |   |__ankylosing spondylitis 1 6 rec.
           |   |__ankylosing spondylitis 2
           |   |__ankylosing spondylitis 3
           |   |__juvenile ankylosing spondylitis
           |__autoimmune epilepsy
           |__autoimmune hemolytic anemia
           |__autoimmune interstitial lung, joint, and kidney disease 1 rec.
           |__autoinflammation, antibody deficiency, and immune dysregulation syndrome 1 rec.
           |__autoinflammatory disease 12 rec.
           |   |__autoinflammation, panniculitis, and dermatosis syndrome(+)
           |   |__familial Behcet-like autoinflammatory syndrome 1 rec.
           |   |__familial cold autoinflammatory syndrome(+) 1 rec.
           |   |__familial Mediterranean fever
           |   |__neonatal inflammatory skin and bowel disease 1 1 rec.
           |   |__neonatal nephrocutaneous inflammatory syndrome 1 rec.
           |   |__proteosome-associated autoinflammatory syndrome(+) 8 rec.
           |   |__TNF receptor–associated periodic syndrome
           |__B cell deficiency 21 rec.
           |   |__agammaglobulinemia(+) 15 rec.
           |   |__congenital hypogammaglobulinemia
           |   |__hyperimmunoglobulin syndrome(+) 4 rec.
           |   |__immunodeficiency 61 1 rec.
           |   |__immunodeficiency 62 1 rec.
           |   |__immunodeficiency 125
           |   |__immunoglobulin alpha deficiency
           |   |__immunoglobulin beta deficiency
           |   |__lambda 5 deficiency
           |   |__selective immunoglobulin deficiency disease(+)
           |__Behcet's disease
           |__combined immunodeficiency 55 rec.
           |   |__B cell and dendritic cell deficiency(+) 1 rec.
           |   |__combined cellular and humoral immune defects with granulomas
           |   |__combined T cell and B cell immunodeficiency(+) 30 rec.
           |   |__immunodeficiency 12
           |   |__immunodeficiency 33
           |   |__immunodeficiency 41
           |   |__immunodeficiency 50 1 rec.
           |   |__immunodeficiency 55 2 rec.
           |   |__immunodeficiency 71 1 rec.
           |   |__immunodeficiency 72 1 rec.
           |   |__immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 3 rec.
           |   |__immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 3 rec.
           |   |__immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 3 rec.
           |   |__immunodeficiency 130 with HPV-related verrucosis
           |   |__monocyte, dendritic cell, and NK cell deficiency(+)
           |   |__severe combined immunodeficiency(+) 14 rec.
           |   |__T cell, B cell, and NK cell deficiency(+) 3 rec.
           |__complement deficiency 3 rec.
           |   |__atypical hemolytic-uremic syndrome
           |   |__C1 inhibitor deficiency
           |   |__complement component 2 deficiency
           |   |__complement component 3 deficiency 3 rec.
           |   |__complement component 4a deficiency 3 rec.
           |   |__complement component 4b deficiency 3 rec.
           |   |__complement component 5 deficiency 3 rec.
           |   |__complement component 6 deficiency
           |   |__complement component 7 deficiency
           |   |__complement component 9 deficiency
           |   |__complement factor I deficiency
           |   |__type I complement component 8 deficiency
           |   |__type II complement component 8 deficiency
           |   |__X-linked properdin deficiency
           |__dendritic cell deficiency
           |   |__immunodeficiency 32A
           |__ectodermal dysplasia and immune deficiency 1 rec.
           |   |__ectodermal dysplasia and immunodeficiency 1
           |   |__ectodermal dysplasia and immunodeficiency 2 1 rec.
           |__epidermodysplasia verruciformis
           |__epidermolysis bullosa acquisita
           |__Felty's syndrome
           |__immunodeficiency 18
           |__immunodeficiency 20
           |__immunodeficiency 21 2 rec.
           |__immunodeficiency 27A
           |__immunodeficiency 27B
           |__immunodeficiency 28
           |__immunodeficiency 29
           |__immunodeficiency 31A 1 rec.
           |__immunodeficiency 31B 1 rec.
           |__immunodeficiency 31C 1 rec.
           |__immunodeficiency 35 1 rec.
           |__immunodeficiency 38
           |__immunodeficiency 39
           |__immunodeficiency 42 1 rec.
           |__immunodeficiency 43
           |__immunodeficiency 44 1 rec.
           |__immunodeficiency 45
           |__immunodeficiency 47 3 rec.
           |__immunodeficiency 51
           |__immunodeficiency 57 1 rec.
           |__immunodeficiency 65
           |__immunodeficiency 66 1 rec.
           |__immunodeficiency 80 1 rec.
           |__immunodeficiency 81
           |__immunodeficiency 82 1 rec.
           |__immunodeficiency 84 1 rec.
           |__immunodeficiency 85 1 rec.
           |__immunodeficiency 88 3 rec.
           |__immunodeficiency 89
           |__immunodeficiency 90 1 rec.
           |__immunodeficiency 91 1 rec.
           |__immunodeficiency 92 2 rec.
           |__immunodeficiency 93 1 rec.
           |__immunodeficiency 94
           |__immunodeficiency 95
           |__immunodeficiency 96 1 rec.
           |__immunodeficiency 100
           |__immunodeficiency 101 1 rec.
           |__immunodeficiency 106
           |__immunodeficiency 107
           |__immunodeficiency 108 1 rec.
           |__immunodeficiency 109
           |__immunodeficiency 113 1 rec.
           |__immunodeficiency 114 3 rec.
           |__immunodeficiency 115 1 rec.
           |__immunodeficiency 118 1 rec.
           |__immunodeficiency 127
           |__immunodeficiency 131
           |__immunodeficiency 132A 1 rec.
           |__immunodeficiency 132B 1 rec.
           |__immunodeficiency 133 1 rec.
           |__limbic encephalitis
           |__lymphoproliferative syndrome 2 rec.
           |   |__Castleman disease(+)
           |   |__lymphomatoid granulomatosis(+)
           |   |__lymphoproliferative syndrome 1 1 rec.
           |   |__lymphoproliferative syndrome 2
           |   |__X-linked lymphoproliferative syndrome 1
           |   |__X-linked lymphoproliferative syndrome 2 1 rec.
           |__mixed connective tissue disease
           |__NK cell deficiency 1 rec.
           |   |__immunodeficiency 54 1 rec.
           |__pemphigoid gestationis
           |__phagocyte bactericidal dysfunction 1 rec.
           |   |__chronic granulomatous disease(+) 1 rec.
           |   |__immunodeficiency 34 1 rec.
           |__polymyalgia rheumatica
           |__polymyositis
           |__postinfectious encephalitis
           |__primary biliary cholangitis
           |   |__primary biliary cholangitis 1
           |   |__primary biliary cholangitis 2
           |   |__primary biliary cholangitis 3
           |   |__primary biliary cholangitis 4
           |   |__primary biliary cholangitis 5
           |__psoriasis 1 rec.
           |   |__parapsoriasis
           |   |__psoriasis 1
           |   |__psoriasis 2
           |   |__psoriasis 3
           |   |__psoriasis 4
           |   |__psoriasis 5
           |   |__psoriasis 6
           |   |__psoriasis 7
           |   |__psoriasis 8
           |   |__psoriasis 9
           |   |__psoriasis 10
           |   |__psoriasis 11
           |   |__psoriasis 12
           |   |__psoriasis 13
           |   |__psoriasis 15 1 rec.
           |   |__pustular psoriasis 14
           |__psoriatic arthritis
           |__reactive arthritis
           |__relapsing polychondritis
           |__rheumatic pulmonary valve disease
           |__rheumatoid arthritis 4 rec.
           |   |__adult-onset Still's disease
           |   |__juvenile rheumatoid arthritis
           |__rheumatoid arthritis interstitial lung disease
           |__T cell and NK cell immunodeficiency 3 rec.
           |   |__immunodeficiency 10 1 rec.
           |   |__immunodeficiency 30
           |   |__immunodeficiency 63
           |   |__immunodeficiency 69
           |   |__immunodeficiency 97 1 rec.
           |   |__immunodeficiency 102 1 rec.
           |   |__immunodeficiency 117
           |__T cell deficiency 16 rec.
           |   |__immunodeficiency 7
           |   |__immunodeficiency 9 1 rec.
           |   |__immunodeficiency 11B
           |   |__immunodeficiency 13 1 rec.
           |   |__immunodeficiency 17
           |   |__immunodeficiency 25
           |   |__immunodeficiency 48 1 rec.
           |   |__immunodeficiency 49 1 rec.
           |   |__immunodeficiency 52
           |   |__immunodeficiency 79
           |   |__immunodeficiency 86
           |   |__immunodeficiency 87
           |   |__immunodeficiency 116
           |   |__immunodeficiency 123
           |   |__immunodeficiency 129 3 rec.
           |   |__Nezelof syndrome 1 rec.
           |   |__X-Linked immunodeficiency 74 8 rec.
           |__temporal arteritis
           |__type 1 diabetes mellitus 7 rec.
           |   |__latent autoimmune diabetes in adults
           |   |__type 1 diabetes mellitus 2
           |   |__type 1 diabetes mellitus 3
           |   |__type 1 diabetes mellitus 4
           |   |__type 1 diabetes mellitus 5 1 rec.
           |   |__type 1 diabetes mellitus 6
           |   |__type 1 diabetes mellitus 7
           |   |__type 1 diabetes mellitus 8
           |   |__type 1 diabetes mellitus 10
           |   |__type 1 diabetes mellitus 11
           |   |__type 1 diabetes mellitus 12
           |   |__type 1 diabetes mellitus 13
           |   |__type 1 diabetes mellitus 15
           |   |__type 1 diabetes mellitus 17
           |   |__type 1 diabetes mellitus 18
           |   |__type 1 diabetes mellitus 19
           |   |__type 1 diabetes mellitus 20
           |   |__type 1 diabetes mellitus 21
           |   |__type 1 diabetes mellitus 22
           |   |__type 1 diabetes mellitus 23
           |   |__type 1 diabetes mellitus 24
           |__ulcerative colitis
           |__WHIM syndrome 1
           |__WHIM syndrome 2
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Is a immune system disease
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Synonyms
  • "hypoimmunity" EXACT
    "immune deficiency disorder" EXACT
    "immunodeficiency syndrome" EXACT
Secondary IDs
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ICD10CM:D84.9
ICD9CM:279.3
KEGG:05340
MESH:D007153
MIM:242850
MIM:PS300755
NCI:C39725
SNOMEDCT_US_2023_03_01:191005003
UMLS_CUI:C0021051