Auto-inflammatory disorders

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Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Auto-inflammatory disorders are characterized by spontaneous inflammation, due to the over activation of innate immunity, which occur without any predisposing infections or autoimmunity disorders. These disorders can be broadly classified into type types; hereditary and acquired. Auto-inflammatory disorders which are related to primary immunodeficiency diseases belong to the hereditary type. Although immunodeficiency and auto-inflammation are separate entities, situations can occur when both inflammation and infections coexist. Hence, it is important to rule out infections when diagnosing auto-inflammatory disorders in immunodeficiency.

Classification

 
 
 
 
 
 
 
 
 
 
 
 
Auto-inflammatory disorders
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Recurrent inflammation
 
 
 
Systemic inflammation with urticaria rash
 
 
 
Others
 
 
 
 
Sterile inflammation (skin/bone/joints)
 
 
 
 
 
Type 1 Interferonopathies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Familial mediterranean fever
 
 
 
 
Familial cold autoinflammatory syndrome
 
 
 
 
CANDLE syndrome
 
Predominant on the bone/joints
 
 
Predominant on the skin
 
 
 
 
Aicardi-Goutieres syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mevalonate kinase deficiency
 
 
 
 
Muckle-Wells syndrome
 
 
 
 
COPA defect
 
 
 
Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia
 
 
 
Blau syndrome
 
 
 
Spondyloenchondro-dysplasia with immune dysregulation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TNF receptor-associated periodic syndrome; TRAPS
 
 
 
 
Neonatal onset multisystem inflammatory disease
 
 
 
 
NLRC4-MAS(Macrophage activating syndrome)
 
 
 
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
 
 
 
CAMPS
 
 
 
STING-associated vasculopathy, infantile onset
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PLAID (PLCg2 associated antibody deficiency and immune dysregulation)
 
 
 
 
 
 
 
 
 
DIRA (Deficiency of the interleukin 1 receptor antagonist)
 
 
 
DITRA
 
 
 
Adenosine deaminase 2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NLRP1 deficiency
 
 
 
 
 
 
 
 
 
Cherubism
 
 
 
ADAM17 deficiency
 
 
 
XL reticulate pigmentary disorder
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
A20 haploinsufficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SLC29A3 mutation
 
 
 
USP18 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Otulipenia/ORAS
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
AP153 deficiency
 
 
 
 
 
 
 

Familial Mediterranean Fever

For more information about familial mediterranean fever, click here.

Mevalonate kinase deficiency (Hyper IgD syndrome)

For more information about mevalonate kinase deficiency, click here.

TNF receptor-associated periodic syndrome

Familial Cold Auto-Inflammatory Syndrome

For more information about familial cold auto-inflammatory syndrome, click here.

Muckle-Wells Syndrome

For more information about Muckle-Wells syndrome, click here.

Neonatal onset multisystem inflammatory disease

For more information about neonatal onset multisystem inflammatory disease, click here.

PLAID (PLCg2 associated antibody deficiency and immune dysregulation)

NLRP1 deficiency

A20 halpoinsufficiency

Candle syndrome

COPA defect

NLRC4-MAS (Macrophage activating syndrome)

Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia

Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)

  • Majeed syndrome (MJDS) is caused by homozygous mutation in the LPIN2 gene on chromosome 18.[24]
  • Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia.

DIRA (Deficiency of the interleukin 1 receptor antagonist)

Cherubism

For more information about cherubism, click here.

Blau syndrome

For more information about Blau syndrome, click here.

CAMPS (CARD14 mediated psoriasis)

DITRA (Deficiency of IL-36 receptor anatagonist)

ADAM17 deficiency

SLC29A3 mutation

Otulipenia

AP1S3 deficiency

Aicardi-Goutieres syndrome

For more information about Aicardi-Goutieres syndrome, click here.

Spondyloenchondro-dysplasia with immune dysregulation

STING-associated vasculopathy-infantile onset

Adenosine deaminase 2 deficiency

XL reticulate pigmentary disorder

USP18 deficiency

References

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