Autoinflammatory syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation without involvement of autoantibodies or abnormal T and B cells. They are caused by errors in the innate immune system and result in fever, joint pain, skin rashes, and abdominal pain. Some examples include familial Mediterranean fever, hyperimmunoglobin D syndrome, mevalonate kinase deficiency, and tumor necrosis factor receptor associated periodic syndrome. Genetic mutations can also cause specific autoinflammatory syndromes, such as Blau syndrome caused by a NOD2 gene mutation and Majeed syndrome caused by mutations in the LPIN2 gene.

1. AUTOINFLAMMATORY
SYNDROMES

2. INTRODUCTION
 autoinflammatory syndromes are a set of disorders
characterized by recurrent episodes of systemic and organ-
specific inflammation.
 It is also known as Periodic fever
syndromes or autoinflammatory diseases

3.  Unlike autoimmune disorders such as systemic lupus
erythematosus, in which the disease is caused by
abnormalities of the adaptive immune system, patients with
autoinflammatory diseases do not produce autoantibodies or
antigen-specific T or B cells. Instead, the autoinflammatory
diseases are characterized by errors in the innate immune
system.

4.  The syndromes are diverse, but tend to cause episodes of
fever, joint pains, skin rashes, abdominal pains and may lead
to chronic complications such as amyloidosis.
 Blau syndrome is an autosomal dominant genetic
inflammatory disorder which affects the skin, eyes, and joints.
It is caused by a mutation in the NOD2 (CARD15) gene.

5.  Majeed syndrome is an inherited skin disorder characterized
by chronic recurrent multifocal osteomyelitis, congenital
dyserythropoietic anemia and a neutrophilic dermatosis.
 It is classified as an autoinflammatory bone disorder. The
condition is found in people with two defective copies
(autosomal recessive inheritance) of the LPIN2 gene. LPIN2
encodes lipin-2 which is involved in lipid metabolism.

6. ICD-10-CM GUIDELINES
 Autoinflammatory syndromes-M04
 Periodic fever syndromes-M04.1
 Applicable to
Familial Mediterranean fever
Hyperimmunoglobin D syndrome
Mevalonate kinase deficiency
Tumor necrosis factor receptor associated periodic syndrome
[TRAPS]

7.  Cryopyrin-associated periodic syndromes-M04.2
 Applicable To
Chronic infantile neurological, cutaneous and articular
syndrome [CINCA]
Familial cold autoinflammatory syndrome
Familial cold urticaria
Muckle-Wells syndrome
Neonatal onset multisystemic inflammatory disorder [NOMID]

8.  Other autoinflammatory syndromes-M04.8
 Applicable To
 Blau syndrome
 Deficiency of interleukin 1 receptor antagonist [DIRA]
 Majeed syndrome
 Periodic fever, aphthous stomatitis, pharyngitis, and
adenopathy syndrome [PFAPA]
 Pyogenic arthritis, pyoderma gangrenosum, and acne
syndrome [PAPA]

9.  Autoinflammatory syndrome, unspecified-M04.9
 https://www.medesunglobal.com

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