Immunodeficiencies

Metadata

Name	Immunodeficiencies (immunodef)
Category	Haematological or immunological
Sex
Adult	Yes
UUID	6e8701a3-d21e-4d0d-b306-4ed2866240d7
Definition	Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in immunity generally characterized by an increased susceptibility to infectious diseases. They are often associated with autoimmune disease manifestations.

Ontologies

Disease Ontology (DOID)	DOID_612
GWAS Catalogue	Orphanet_101997
MeSH	D000081207
SNOMED-CT	58606001
FinnGen	D3_IMMUDEF

Key Summary Statistics

Cases from any source

Total	567
Female (%)	296 (52%)
Male (%)	271 (48%)

Year first recorded

Cases linked in all UK Biobank sources

Cross-source concordance

Vertical bars correspond to number of cases per source/intersection; horizontal bars to left correspond to total number of cases per source.

Incidence & prevalence

Baseline prevalence stratified by sex

Female	3.18 (1.98,4.38)
Male	2.38 (1.25,3.51)

Incidence stratified by sex

Female	0.6 (0.4,0.8)
Male	0.69 (0.46,0.93)

Incidence stratified by age

Ages 40-44	0.2 (-0.08,0.48)
Ages 45-49	0.82 (0.33,1.3)
Ages 50-54	0.38 (0.08,0.68)
Ages 55-59	0.52 (0.2,0.84)
Ages 60-64	0.92 (0.55,1.29)
Ages 65-69	0.7 (0.33,1.07)

Period prevalence

Methods

Comparison with general population

Sex-standardised prevalence from CALIBER study (Kuan et al. 2019)

Population	Ages 40-49	Ages 50-59	Ages 60-69
UK Biobank	7 (4,9)	5 (3,7)	7 (6,9)
CALIBER	4 (4,5)	5 (5,6)	8 (7,9)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	7(2,17)	2(0,7)	7(3,11)
Low	1(0,7)	6(3,12)	9(5,15)
Medium	5(1,12)	3(1,8)	5(3,10)
High	10(5,19)	4(2,9)	5(2,9)
Most deprived	8(4,16)	9(4,15)	12(7,19)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	7(4,10)	6(4,8)	7(5,9)
Scotland	5(1,15)	1(0,6)	14(7,23)
Wales	3(0,17)	4(0,14)	4(1,12)

Definition

UK Biobank field id	Description	Code	Value
41202	Diagnoses - main ICD10	D80	Immunodeficiency with predominantly antibody defects
41202	Diagnoses - main ICD10	D81	Combined immunodeficiencies
41202	Diagnoses - main ICD10	D82	Immunodeficiency associated with other major defects
41202	Diagnoses - main ICD10	D83	Common variable immunodeficiency
41202	Diagnoses - main ICD10	D84.0	Lymphocyte function antigen-1 [LFA-1] defect
41202	Diagnoses - main ICD10	D84.8	Other specified immunodeficiencies
41202	Diagnoses - main ICD10	D84.9	Immunodeficiency, unspecified
41204	Diagnoses - secondary ICD10	D80	Immunodeficiency with predominantly antibody defects
41204	Diagnoses - secondary ICD10	D81	Combined immunodeficiencies
41204	Diagnoses - secondary ICD10	D82	Immunodeficiency associated with other major defects
41204	Diagnoses - secondary ICD10	D83	Common variable immunodeficiency
41204	Diagnoses - secondary ICD10	D84.0	Lymphocyte function antigen-1 [LFA-1] defect
41204	Diagnoses - secondary ICD10	D84.8	Other specified immunodeficiencies
41204	Diagnoses - secondary ICD10	D84.9	Immunodeficiency, unspecified
40001	Underlying (primary) cause of death: ICD10	D80	Immunodeficiency with predominantly antibody defects
40001	Underlying (primary) cause of death: ICD10	D81	Combined immunodeficiencies
40001	Underlying (primary) cause of death: ICD10	D82	Immunodeficiency associated with other major defects
40001	Underlying (primary) cause of death: ICD10	D83	Common variable immunodeficiency
40001	Underlying (primary) cause of death: ICD10	D84.0	Lymphocyte function antigen-1 [LFA-1] defect
40001	Underlying (primary) cause of death: ICD10	D84.8	Other specified immunodeficiencies
40001	Underlying (primary) cause of death: ICD10	D84.9	Immunodeficiency, unspecified
40002	Contributory (secondary) causes of death: ICD10	D80	Immunodeficiency with predominantly antibody defects
40002	Contributory (secondary) causes of death: ICD10	D81	Combined immunodeficiencies
40002	Contributory (secondary) causes of death: ICD10	D82	Immunodeficiency associated with other major defects
40002	Contributory (secondary) causes of death: ICD10	D83	Common variable immunodeficiency
40002	Contributory (secondary) causes of death: ICD10	D84.0	Lymphocyte function antigen-1 [LFA-1] defect
40002	Contributory (secondary) causes of death: ICD10	D84.8	Other specified immunodeficiencies
40002	Contributory (secondary) causes of death: ICD10	D84.9	Immunodeficiency, unspecified
42040	GP clinical event records	C390000	Hypogammaglobulinaemia NOS
42040	GP clinical event records	C390100	Selective IgA immunodeficiency
42040	GP clinical event records	C390200	Selective IgM immunodeficiency
42040	GP clinical event records	C390300	Selective IgG immunodeficiency
42040	GP clinical event records	C390400	Other selective immunoglobulin deficiency
42040	GP clinical event records	C390500	Congenital hypogammaglobulinaemia
42040	GP clinical event records	C390511	Bruton’s agammaglobulinaemia
42040	GP clinical event records	C390512	Congenital X-linked agammaglobulinaemia
42040	GP clinical event records	C390600	Immunodeficiency with IgM hypergammaglobulinaemia
42040	GP clinical event records	C390700	Common variable immunodeficiency
42040	GP clinical event records	C390800	Transient infant hypogammaglobulinaemia
42040	GP clinical event records	C390900	Agammaglobulinaemia NEC
42040	GP clinical event records	C390A00	Dysimmunoglobulinaemia NEC
42040	GP clinical event records	C390A11	Dysgammaglobulinaemia NEC
42040	GP clinical event records	C390B00	Antibod def wth nr-norm imunoglob/or wth hyperimunoglobaemia
42040	GP clinical event records	C390.00	Deficiencies of humoral immunity
42040	GP clinical event records	C390.11	Agammaglobulinaemia
42040	GP clinical event records	C390y00	Other specified deficiency of humoral immunity
42040	GP clinical event records	C390z00	Deficiency of humoral immunity NOS
42040	GP clinical event records	C391000	Predominantly T-cell immuno-deficiency NOS
42040	GP clinical event records	C391011	T-lymphocyte deficiency
42040	GP clinical event records	C391012	Cellular immunity syndrome
42040	GP clinical event records	C391100	Di George syndrome
42040	GP clinical event records	C391200	Wiskott - Aldrich syndrome
42040	GP clinical event records	C391211	Thrombocytopenic eczema with immunodeficiency
42040	GP clinical event records	C391.00	Deficiencies of cell-mediated immunity
42040	GP clinical event records	C392100	Severe combined immunodeficiency
42040	GP clinical event records	C392111	Swiss type agammaglobulinaemia
42040	GP clinical event records	C392300	Severe combined immunodefiency with reticular dysgenesis
42040	GP clinical event records	C392400	Severe combined immunodef with low T- and B-cell numbers
42040	GP clinical event records	C392500	Severe combined immunodef with low or normal B-cell numbers
42040	GP clinical event records	C392600	Adenosine deaminase deficiency
42040	GP clinical event records	C392700	Purine nucleoside phosphorylase deficiency
42040	GP clinical event records	C392800	Major histocompatibility complex class I deficiency
42040	GP clinical event records	C392900	Major histocompatibility complex class II deficiency
42040	GP clinical event records	C392.00	Combined immunity deficiency
42040	GP clinical event records	C392z00	Combined immunity deficiency NOS
42040	GP clinical event records	C393.00	Unspecified immunity deficiency
42040	GP clinical event records	C395.00	Immunodeficiency with short-limbed stature
42040	GP clinical event records	C396.00	Immunodef follow hereditary defect respon Epstein-Barr vir
42040	GP clinical event records	C397.00	Hyperimmunoglobulin E syndrome
42040	GP clinical event records	C398000	Com var immunodef with predom abn B-cell numbers and functns
42040	GP clinical event records	C398200	Common variable immunodef wth autoantibod to B- or T-cells
42040	GP clinical event records	C398.00	Common variable immunodeficiency
42040	GP clinical event records	C39X.00	Immunodeficiency associated+major defect, unspecified
42040	GP clinical event records	C39y000	Lymphocyte function antigen-1 defect
42040	GP clinical event records	Cyu0000	[X]Other immunodeficiencies+predominantly antibody defects
42040	GP clinical event records	Cyu0400	[X]Other common variable immunodeficiencies
42040	GP clinical event records	Cyu0500	[X]Other specified immunodeficiency disorders
42040	GP clinical event records	XE11v	Congenital hypogammaglobulinaemia
42040	GP clinical event records	X40Ua	Adenosine deaminase deficiency
42040	GP clinical event records	X20Dw	Hyperimmunoglobulin E syndrome
42040	GP clinical event records	XE11u	Deficiencies of humoral immunity
42040	GP clinical event records	X40Uc	Purine nucleoside phosphorylase deficiency
42040	GP clinical event records	C3907	Common variable immunodeficiency
42040	GP clinical event records	XE11w	Predominantly T-cell immuno-deficiency NOS