It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. [ncbi.nlm.nih.gov]

Acronym DIRA Synonyms Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

It presents major topics of immunology through a selection of clinical cases that reinforce and extend the basic science. Each case history is preceded by essential scientific facts about the immunological mechanisms of that specific disorder. [books.google.com]

We present the case of a young patient with unifocal diaphyseal presentation of this disease. Case Report A 12-year-old Caucasian girl presented to our clinic with a history of worsening the left thigh pain for the last 3 months. [jocr.co.in]

Patients present in infancy recurrent, persistent infections by opportunistic organisms. [nectarmutation.org]

• Failure to Thrive in Infancy

  Failure to thrive in infancy MedGen UID: 358083 •Concept ID: C1867873 • Finding Hepatomegaly MedGen UID: 42428 •Concept ID: C0019209 • Finding Abnormally increased size of the liver. [ncbi.nlm.nih.gov]

• Splenomegaly

  Abnormality of the digestive system Hepatomegaly Splenomegaly Abnormality of the immune system Osteomyelitis Splenomegaly ... ... [familydiagnosis.com]

  Splenomegaly MedGen UID: 52469 •Concept ID: C0038002 • Finding Abnormal increased size of the spleen. [ncbi.nlm.nih.gov]

  Hepatomegaly, splenomegaly or hepatosplenomegaly is common. Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain. [autoinflammatory-search.org]

  […] recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly [mousephenotype.org]

  Splenomegaly. Good response to steroids. High rate of self-resolution during adulthood. Amyloidosis is rare. [printo.it]

• Labored Breathing

  The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. [ncbi.nlm.nih.gov]

• Osteopenia

  Osteopenia MedGen UID: 18222 •Concept ID: C0029453 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

• Erythrocyte Sedimentation Rate Abnormal

  Elevated erythrocyte sedimentation rate MedGen UID: 57727 •Concept ID: C0151632 • Finding An increased erythrocyte sedimentation rate (ESR). [ncbi.nlm.nih.gov]

"An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases". Current Clinical Pharmacology. 7 (4): 271–5. ISSN 2212-3938. [en.wikipedia.org]

See also the following treatment articles: Treatments for Osteomyelitis Causes See also causal information: Causes of Osteomyelitis Causes of Periostitis Similar Topic Articles Osteomyelitis Periostitis Pustulosis Names and Terminology References Source [familydiagnosis.com]

However, many other treatments for psoriasis do improve palmoplantar pustulosis.Psoriasis pustulosa palmoplantar. UMLS. [duxadv.webcindario.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Some patients do not exhibit improvement of symptoms despite use of several, sometimes combined, lines of treatment. [ard.bmj.com]

It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location. [jocr.co.in]

Benign neonatal pustuloses are a group of clinical disease characterized by pustular eruptions in which a contagious agent is not responsible for its etiology. [ykdsaznl.tk]

It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location. [jocr.co.in]

A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. [nectarmutation.org]

Osteomyelitis of the Jaws: Definition and Classification (Figure 2.2) ) Acute Osteomyelitis (AO) Secondary Chronic Osteomyelitis (SCO) Primary Chronic Osteomyelitis (PCO) Further subclassification of these major osteomyelitis groups is based on presumed etiology [pathologyoutlines.com]

[…] deficiency - DIRA - Interleukin-1 receptor antagonist deficiency - OMPP Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

(PMID: 20188863) Taype CA … Shaw MA (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 22 45 60 Combined polymorphism analysis of glutathione S-transferase M1/G1 and interleukin [genecards.org]

This is reflected in the low yield of diagnostic tests; consequently, the diagnosis of tuberculosis is often based upon a positive skin test, epidemiological information, and compatible clinical and radiographic presentation. [scienceopen.com]

Epidemiology and predisposing factors for erythema toxicum neonatorum and transient neonatal pustular melanosis: a multicenter study [published online May 25, 2017]. Pediatr Dermatol. 2017;34:422-426. [ykdsaznl.tk]

Therefore, the pathophysiologic immune and inflammatory responses are nullified. [2] [8] Interleukin 1 receptor antagonist(IL1RN) has a total of five alleles, of those the (IL1RN*1) and (IL1RN*2) are the most common as the other alleles are seen less [en.wikipedia.org]

[…] tertiary criteria help determine the necessary therapeutic strategies which may differ somewhat among the subgroups Sites Mainly affects the anterior chest wall, sacroiliac joints, vertebrae When involves the jaws, predominantly involves the mandible Pathophysiology [pathologyoutlines.com]

[Full text] Pustular psoriasis: pathophysiology and current treatment ... ; Sep 12, 2016 ... Editor who approved publication: Professor Uwe Wollina .... with neonatal sterile osteomyelitis, periostitis, and generalized pustulosis. [ykdsaznl.tk]

IL1RN is 2q14.1, while its 2:113,099,364-113,134,015 are the genomic coordinates [2] Mechanism [ edit ] The mechanism of deficiency of the interleukin-1–receptor antagonist affects the normal function of IL1RN gene.The protein produced by IL1RN gene prevents [en.wikipedia.org]

Target SwissProt ID Link P18510 Gene Aliases IL1RN, IL1F3, IL1RA Function Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. [angolife.com]

M.D.C MDC Category Not Assigned For This ICD Code M86.34 Medicare Severity-Diagnosis Related Groups MS-DRG MS-DRG Category Not Assigned For This ICD Code M86.34 Clinical Classifications Software CCS CCS Category Not Assigned For This ICD Code M86.34 Prevention [medicbind.com]

[provided by RefSeq, Jul 2008] uniprot summary : Function: Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. [labome.com]

[provided by RefSeq, Jul 2008] UniProt Comments for IL-1 receptor Function: Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. [mybiosource.com]