Symptoma

Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis

DIRA

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]

Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Mutations may also be more common in individuals of Dutch descent. [ipfs.io]

  • Recurrent Infection

    It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. [ read more ] 21350122 IL17RD causing HH18 615267 The disease is caused by mutations [nectarmutation.org]

  • Splenomegaly

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

    […] 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]

    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]

    Periostitis MedGen UID: 45816 • Concept ID: C0031111 • Disease or Syndrome Inflammation of the periosteum Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen. [ncbi.nlm.nih.gov]

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

  • Respiratory Distress

    distress ; Splenomegaly ; Stomatitis Associated Genes IL1RN (Withdrawn symbols: ICIL-1RA, IL-1RN, IL1F3, IL1RA, IRAP, MGC10430 ) Mouse Orthologs Il1rn (Withdrawn symbols: F630041P17Rik ) Source OMIM:612852 (names, synonyms, disease associated genes), [mousephenotype.org]

    Non-infectious conjunctivitis may be caused by DIRA. [15] [16] Cardiopulmonary: Some with respiratory distress. [autoinflammatory-search.org]

    Respiratory distress MedGen UID: 96907 • Concept ID: C0476273 • Sign or Symptom A pathological increase in the effort and frequency of breathing movements. [ncbi.nlm.nih.gov]

  • Hepatomegaly

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

    Classification bone, developmental, genetic, immunological, rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly [mousephenotype.org]

    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]

    Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver. [ncbi.nlm.nih.gov]

  • Joint Swelling

    Symptoms of Osteomyelitis, sterile multifocal, with periostitis and pustulosis Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Stomatitis Abnormality of metabolism/homeostasis Joint swelling Abnormality of [familydiagnosis.com]

    […] rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint [mousephenotype.org]

    Joint swelling MedGen UID: 56258 • Concept ID: C0152031 • Finding The presence of swelling in a joint. [ncbi.nlm.nih.gov]

    Risk of organ failure if DIRA is untreated. [16] Lymphatic: Splenomegaly is common. [16] Joints bones muscles cartilage: Joint swelling and severe bone pain. Bone biopsies show no infection. [autoinflammatory-search.org]

  • Pustular Rash

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

    Untreated DIRA can lead to death in infancy or early childhood. [16] Age of onset: Most have symptoms at birth, or as a neonate, such as: pustular rash, bone pain, swollen joints, and apthous ulcers. [16] Skin cutaneous: Epidermal neutrophilic pustules [autoinflammatory-search.org]

    Neonate With Pustular Rash - Annals of Emergency Medicine ; Neonatal methicillin-resistant staphylococcal (MRSA) pustulosis. Neonates are frequently brought to the ED for the evaluation of rashes. [ykdsaznl.tk]

  • Hyperkeratosis

    […] bone, developmental, genetic, immunological, rheumatological of childhood, skin, systemic and rheumatological Phenotypes Arthralgia ; Autosomal recessive inheritance ; Epidermal acanthosis ; Fetal distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis [mousephenotype.org]

    Hyperkeratosis MedGen UID: 209030 • Concept ID: C0870082 • Disease or Syndrome Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are [ncbi.nlm.nih.gov]

    Aphthous ulcers, stomatitis, pathergy, hyperkeratosis, acanthosis; high neutrophil infiltrate of the dermis. [16] [26] Neurologic: High fevers are NOT common, or noted in the neonatal period. Neurological complications are not common. [autoinflammatory-search.org]

  • Withdrawn

    […] distress ; Fused cervical vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly ; Stomatitis Associated Genes IL1RN (Withdrawn [mousephenotype.org]

  • Neonate-Onset

    Marked elevated erythrocyte sedimentation rate (ESR) and CRP Genetic test for mutations of IL1RN Infantile pustulosis (neonatal onset pustulosis) Infantile pustular psoriasis SAPHO (Synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome DMARDs [bindevevssykdommer.no]

    METHODS: We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. [scholars.northwestern.edu]

    See also Neonatal onset multisystem inflammatory disease (NOMID) References Aksentijevich I, Masters SL, Ferguson PJ et al.. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. N Engl J Med. 2009; 360: 2426-2437. [ipfs.io]

    METHODS We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. [lup.lub.lu.se]

    Majeed’s syndrome LPIN2 18p LPIN2 AR Multifocal osteomyelitis, congenital dyserythropoietic anemia, inflammatory dermatosis DIRA IL1RN 2q IL1 receptor antagonist AR Neonatal-onset multifocal osteomyelitis, periostitis, and pustulosis. [printo.it]

  • Candida

    Six new cases have been added to this edition: DOCK8 deficiency, activated PI3K delta syndrome, increased susceptibility to candida infections, LRBA deficiency, T cell signaling defects, and channelopathies. [books.google.com]

    It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. [ read more ] 21350122 IL17RD causing HH18 615267 The disease is caused by mutations [nectarmutation.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]

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]

Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including [scholars.northwestern.edu]

Most patients with DIRA respond well to anakinra, the same drug previously mentioned for NOMID treatment, a synthetic form of human IL-1Ra. [ipfs.io]

Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. [books.google.com]

PMID: 22431714 Free PMC Article Prognosis Posso-De Los Rios CJ, Pope E J Am Acad Dermatol 2014 Apr;70(4):767-773. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. [ncbi.nlm.nih.gov]

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]

Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. [ncbi.nlm.nih.gov]

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]

Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis ... ; Dear Editor, Referring to synovitis, acne, pustulosis, hyperostosis and osteitis; SAPHO syndrome is defined as a chronic, relapsing rheumatologic disease of uncertain etiology characterized [ykdsaznl.tk]

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]

[…] 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]

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]

Awareness about this disease and its variants is paramount to prevent unnecessary repeated biopsies and antibiotic regimens. [jocr.co.in]