FB2026_03 , released September 17, 2026
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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"
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Alleles (FBal)HUMAN_DISEASE_INTERACTIONS
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 primary immunodeficiency disease
 model of | primary immunodeficiency disease
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Vocabulary search 
  disease of anatomical entity
   |__immune system disease
       |__primary immunodeficiency disease  148 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 13 rec.
           |   |__autoinflammation, panniculitis, and dermatosis syndrome(+)
           |   |__familial Behcet-like autoinflammatory syndrome 1 rec.
           |   |__familial cold autoinflammatory syndrome(+) 1 rec.
           |   |__familial Mediterranean fever
           |   |__interleukin-1 receptor antagonist deficiency
           |   |__Majeed syndrome 1 rec.
           |   |__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
           |   |__systemic 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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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_2025_09_01:191005003
UMLS_CUI:C0021051