Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Chronic inflammatory disorders
Hereditary complement disorders
Immunoglobulin disorders
Primary immunodeficiency
Hereditary susceptibility to infections
Disorders of mRNA editing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
HIV resistance
CCR5
CXCR1
Malaria
TNF
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
Immunodeficiency 21
GATA2
Immunodeficiency 31A
STAT1
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
STAT1
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
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.

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Update: Sept. 26, 2018