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Condition report · Immunological
Inherited conditions in which the innate immune system triggers inflammation without infection, causing fevers, rashes, joint, bone or gut inflammation. Each is caused by a single gene.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
Episodes of sterile joint inflammation with severe skin ulcers and acne, caused by variants in PSTPIP1.
Genes analysed
Also known as
familial recurrent arthritis; FRA; PAPA; papa syndrome; pyogenic arthritis, pyoderma gangrenosum and acne; pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
Autosomal recessive
Recurrent bone inflammation (osteomyelitis), anaemia and skin inflammation from childhood, caused by variants in LPIN2.
Genes analysed
Also known as
CDA and CRMO; chronic recurrent multifocal osteomyelitis, congenital; chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome; congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis; congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; dyserythropoietic anemia, and neutrophilic dermatosis; MJDS
Autosomal recessive
Pustular skin rash and bone inflammation from birth, caused by IL1RN deficiency; it responds to IL-1 blocking treatment.
Genes analysed
Also known as
autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; deficiency of interleukin-1 receptor antagonist; deficiency of the Interleukin-1 receptor antagonist; DIRA; Interleukin-1 receptor antagonist deficiency; OMPP; osteomyelitis, STERILE multifocal, with periostitis and pustulosis
Autosomal recessive
Episodes of widespread sterile pustules with fever, caused by IL36RN deficiency.
Genes analysed
Also known as
acrodermatitis continua of Hallopeau; acrodermatitis continua suppurativa of Hallopeau; deficiency of IL-36R antagonist; deficiency of IL-36Ra; deficiency of the interleukin-36 receptor antagonist; DITRA; familial generalised pustular psoriasis; generalised pustular psoriasis; GPP; IL36RN psoriasis; Interleukin 36 receptor antagonist deficiency; palmoplantar pustulosis; psoriasis caused by mutation in IL36RN; PSORP; PSORS14
Autosomal dominant
Blistering skin inflammation, eye, gut and lung inflammation with antibody deficiency, caused by variants in PLCG2.
Genes analysed
Also known as
APLAID; AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated
Autosomal dominant
Recurrent fevers, rash and severe infant-onset enterocolitis, sometimes with macrophage activation, caused by NLRC4 gain-of-function variants.
Genes analysed
Also known as
AIFEC; AUTOINFLAMMATION with infantile enterocolitis; NLRC4-related autoinflammatory syndrome with macrophage activation syndrome; NLRC4-related autoinflammatory syndrome with MAS; NLRC4-related infantile enterocolitis-autoinflammatory syndrome; NLRC4-related macrophage activation syndrome; NLRC4-related MAS
Autosomal recessive
Fevers, painful skin nodules, diarrhoea and joint pain from infancy, caused by OTULIN deficiency.
Genes analysed
Also known as
AIPDS; ORAS; otulin deficiency; otulin-related autoinflammatory syndrome; otulipenia
Autosomal dominant
A Behcet-like disease with mouth and genital ulcers, fevers and autoimmunity, caused by variants in TNFAIP3.
Genes analysed
Also known as
AISBL; autoinflammatory syndrome, familial, Behcet-like; Behçet-like disease due to HA20; Behçet-like disease due to haploinsufficiency of A20; hereditary paediatric Behçet-like disease; hereditary pediatric Behçet-like disease
X-linked recessive
Mouth ulcers, fevers and gut inflammation in males, caused by variants in ELF4.
Genes analysed
Also known as
AIFBL2; deficiency 1n ELF4, X-linked
Autosomal dominant
Early-onset autoimmunity and inflammation, such as lupus, low platelets and arthritis, caused by variants in SOCS1.
Genes analysed
Autosomal dominant
Neonatal-onset fevers, rash, blood vessel inflammation and liver involvement caused by LYN gain-of-function variants.
Genes analysed
X-linked recessive
Early-onset autoimmunity, low platelets and gut inflammation in males, caused by variants in DOCK11.
Genes analysed
Autosomal dominant
Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.
Genes analysed
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