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]

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]

distress ; Splenomegaly ; Stomatitis Associated Genes IL1RN (Withdrawn symbols: ICIL-1RA, IL-1RN, IL1F3, IL1RA, IRAP, MGC10430 ) Mouse Orthologs Il1rn (Withdrawn symbols: F630041P17Rik ) Source OMIM:612852 (names, synonyms, disease associated genes), [mousephenotype.org]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

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]

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]

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]

[…] 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]

[…] 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]

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]

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]

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

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]