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Zpráva o onemocněních · Immunological

Rare Autoinflammatory Diseases (PAPA, DIRA, HA20)

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.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 13 onemocnění, která analyzujeme

PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne)

Autozomálně dominantní

Episodes of sterile joint inflammation with severe skin ulcers and acne, caused by variants in PSTPIP1.

Analyzované geny

Známé také jako

familial recurrent arthritis; FRA; PAPA; papa syndrome; pyogenic arthritis, pyoderma gangrenosum and acne; pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne

MONDO:0011462OMIM 604416Orphanet 69126MedGen 346801

Majeed syndrome

Autozomálně recesivní

Recurrent bone inflammation (osteomyelitis), anaemia and skin inflammation from childhood, caused by variants in LPIN2.

Analyzované geny

Známé také jako

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

MONDO:0012316OMIM 609628Orphanet 77297MedGen 351273

Deficiency of IL-1 receptor antagonist (DIRA)

Autozomálně recesivní

Pustular skin rash and bone inflammation from birth, caused by IL1RN deficiency; it responds to IL-1 blocking treatment.

Analyzované geny

Známé také jako

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

MONDO:0013021OMIM 612852Orphanet 210115MedGen 411230

Generalised pustular psoriasis (DITRA)

Autozomálně recesivní

Episodes of widespread sterile pustules with fever, caused by IL36RN deficiency.

Analyzované geny

Známé také jako

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

MONDO:0013626OMIM 614204Orphanet 163931Orphanet 404546MedGen 581114

APLAID (PLCG2-associated autoinflammation and immune dysregulation)

Autozomálně dominantní

Blistering skin inflammation, eye, gut and lung inflammation with antibody deficiency, caused by variants in PLCG2.

Analyzované geny

Známé také jako

APLAID; AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated

MONDO:0013944OMIM 614878Orphanet 324530MedGen 766875

NLRC4-related autoinflammatory disease

Autozomálně dominantní

Recurrent fevers, rash and severe infant-onset enterocolitis, sometimes with macrophage activation, caused by NLRC4 gain-of-function variants.

Analyzované geny

Známé také jako

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

MONDO:0014472OMIM 616050Orphanet 436166MedGen 863504

Otulipenia (ORAS)

Autozomálně recesivní

Fevers, painful skin nodules, diarrhoea and joint pain from infancy, caused by OTULIN deficiency.

Analyzované geny

Známé také jako

AIPDS; ORAS; otulin deficiency; otulin-related autoinflammatory syndrome; otulipenia

MONDO:0014912OMIM 617099Orphanet 500062MedGen 934581

Haploinsufficiency of A20 (HA20)

Autozomálně dominantní

A Behcet-like disease with mouth and genital ulcers, fevers and autoimmunity, caused by variants in TNFAIP3.

Analyzované geny

Známé také jako

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

MONDO:0800045OMIM 616744Orphanet 476102Orphanet 674762MedGen 898541

ELF4 deficiency (Behcet-like autoinflammatory syndrome 2)

X-vázaně recesivní

Mouth ulcers, fevers and gut inflammation in males, caused by variants in ELF4.

Analyzované geny

Známé také jako

AIFBL2; deficiency 1n ELF4, X-linked

MONDO:0024770OMIM 301074Orphanet 676125MedGen 1808082

SOCS1 haploinsufficiency

Autozomálně dominantní

Early-onset autoimmunity and inflammation, such as lupus, low platelets and arthritis, caused by variants in SOCS1.

Analyzované geny

MONDO:0800130OMIM 619375MedGen 1784363

LYN-related autoinflammatory disease with vasculitis

Autozomálně dominantní

Neonatal-onset fevers, rash, blood vessel inflammation and liver involvement caused by LYN gain-of-function variants.

Analyzované geny

MONDO:0957271OMIM 620376MedGen 1841161

DOCK11-related immune dysregulation

X-vázaně recesivní

Early-onset autoimmunity, low platelets and gut inflammation in males, caused by variants in DOCK11.

Analyzované geny

Zahrnuje 2 příbuzných podtypů ↓
  • early-onset autoimmune disorder due to DOCK11 partial deficiency
  • early-onset immune dysregulation due to DOCK11 complete deficiency
MONDO:0957494OMIM 301109MedGen 1840213

PTPN2-related autoinflammation and autoimmunity

Autozomálně dominantní

Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

Analyzované geny

Zahrnuje 38 příbuzných podtypů ↓
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres syndrome 1
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome 6
  • Aicardi-Goutieres syndrome 7
  • Aicardi-Goutieres syndrome 8
  • Aicardi-Goutieres syndrome 9
  • autoimmune interstitial lung disease-arthritis syndrome
  • autoinflammation and autoimmunity with immune dysregulation 1
  • autoinflammation and autoimmunity with immune dysregulation 2
  • basal ganglia calcification, idiopathic, childhood-onset
  • chilblain lupus 1
  • chilblain lupus 2
  • deficiency of adenosine deaminase 2
  • familial chilblain lupus
  • proteasome-associated autoinflammatory syndrome 1
  • proteasome-associated autoinflammatory syndrome 2
  • proteasome-associated autoinflammatory syndrome 3
  • proteasome-associated autoinflammatory syndrome 4
  • proteasome-associated autoinflammatory syndrome 5
  • proteasome-associated autoinflammatory syndrome 6
  • proteosome-associated autoinflammatory syndrome
  • pseudo-TORCH syndrome 2
  • retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • Singleton-Merten dysplasia
  • Singleton-Merten syndrome 1
  • Singleton-Merten syndrome 2
  • Spondyloenchondrodysplasia with immune dysregulation
  • STING-associated vasculopathy with onset in infancy
  • TREX1-related autosomal dominant Aicardi-Goutieres syndrome
  • trichohepatoenteric syndrome
  • trichohepatoenteric syndrome 1
  • trichohepatoenteric syndrome 2
  • type 1 interferonopathy of childhood
  • X-linked reticulate pigmentary disorder
MONDO:0957018Orphanet 319719MedGen 1842803

Další immunological conditions

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