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Primary immunodeficiency

Primary immunodeficiencies is a group of disorders that comprises inborn errors of immunity. Affected patients are characterized by recurrent infections or other immunological problems.

Historical Aspects

The first hereditary disorders which showed impaired immune defense were X-linked agammaglobulinemia, congenital
neutropenia, and severe combined immunodeficiency(SCID). There first primary immunodeficiencies were mostly hematopoietic, recessive, rare, and monogenic.[Error: Macro 'ref' doesn't exist]

Classification

Prediposition to severe infectious diseases historically was the hallmark of primary immunodeficiencies. Today other phenotypes may are included autoimmunity, angioedema, granulomas, autoinflammation, hemophagocytosis, and thrombotic microangiopathy.
(17).

Epidemiology

The prevalence of primary immunodeficiencies is estimated about 1:2000. However, if the complexity of the immune system is taken into account and the fact that some defects only manifest under specific environmental conditions, we may conclude that almost everybody carries some sort of immunodeficiency.[Error: Macro 'ref' doesn't exist]

Systematic

Hereditary immunological disorders
Atopy
Autoimmune disease
Autoinflammatory disease
Chediak-Higashi syndrome
Graft-versus-host disease protection
Griscelli syndrome type 2
Hereditary complement disorders
Immunoglobulin disorders
Interferonopathy
Primary immunodeficiency
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
Disposition to infections
Disorders of mRNA editing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
Familial candidiasis
CLEC6A
Familial candidiasis 2
CARD9
Familial candidiasis 3
Familial candidiasis 4
CLEC7A
Familial candidiasis 5
IL17RA
Familial candidiasis 6
IL17F
Familial candidiasis 8
TRAF3IP2
Familial candidiasis 9
IL17RC
Genetic susceptibility to aspergillosis
CLEC1A
CLEC7A
HIV resistance
AIDS progression
IFNG
CCR5
CXCR1
HIV-1 viremia susceptibility
HLA-C
HIV1 susceptibility
IL10
IRAK4 deficiency
IRAK4
Invasive pneumococcal disease
Invasive pneumococcal disease 1
IRAK4
Invasive pneumococcal disease 2
IKBKG
Invasive pneumococcal disease 3
TIRAP
Measles infection susceptibility
CD46
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP
Resistance to trypanosoma brucei
APOL1
Septic shock
TNF
Susceptibility to bacteremia 1
TIRAP
Susceptibility to malaria
FCGR2A
FCGR2B
TNF
Susceptibility to mycobacterial diseases
TIRAP
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG
Susceptibility to pseudomonas infection
FCGR2A
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG
IRAK4 deficiency
IRAK4
Immunodeficiency 20
FCGR3A
Immunodeficiency 21
GATA2
Immunodeficiency 31A
STAT1
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
STAT1
Immunodeficiency 33
IKBKG
Immunodeficiency 38
ISG15
Immunodeficiency 41
IL2RA
Immunodeficiency 51
IL17RA
Immunodeficiency 68
MYD88
Immunodeficiency 69
IFNG
Immunodeficiency 74, COVID19-related
TLR7
TLR8
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
Variable immunodeficiency type 7
CR2
Vasculitis due to ADA2 deficiency
ADA2
Wiskott–Aldrich syndrome
WAS
Susceptibility to allergic rhinitis
Susceptibility to asthma

References:

1.

Casanova JL et al. (2007) Primary immunodeficiencies: a field in its infancy.

external link
2.

Orphanet article

Orphanet ID 101997 external link
3.

Wikipedia article

Wikipedia EN (Primary_immunodeficiency) external link
Update: Aug. 14, 2020
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