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Blau Syndrome



  • We present the case of a 7-year-old girl with co-existing symptoms of two rare diseases, Blau syndrome and NAID.[ncbi.nlm.nih.gov]
Renal Artery Stenosis
  • PubMed Central View Article PubMed Google Scholar Gross KR, Malleson PN, Culham G, Lirenman DS, McCormick AQ, Petty RE: Vasculopathy with renal artery stenosis in a child with sarcoidosis. J Pediatr. 1986, 108: 724-726.[ped-rheum.biomedcentral.com]
Retinal Lesion
  • This report illustrates the presence of a remarkable distribution of perivascular, presumably granulomatous, retinal lesions in the middle retina.[ncbi.nlm.nih.gov]
  • “When we took her in to see her primary care physician, he said it was eczema.” However, Makenna’s parents were not convinced by the doctor’s hasty diagnosis, so they consulted a dermatologist to get a biopsy.[childrensinn.org]
  • […] have these symptoms is not available through HPO Abnormal cranial nerve morphology 0001291 Abnormality of the ear 0000598 Arthritis Joint inflammation 0001369 Autosomal dominant inheritance 0000006 Band keratopathy 0000585 Cystoid macular edema 0011505 Eczema[rarediseases.info.nih.gov]
  • STAT5b deficiency Modestly decreased Normal Normal Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstital pneumonitis AR Defects of STAT5B gene, impaired development and function of γδT cells, Treg and NK cells, impaired[ncbi.nlm.nih.gov]
  • Other times, a common skin condition such as psoriasis (pictured) or eczema might affect a person's appearance. But some folks have health conditions that result in permanently atypical skin.[cbsnews.com]
Papular Rash
  • With this report, we would like to stress the rare possibility of Blau syndrome in generalized papular rashes of infancy and the importance of histopathologic study for clarification.[ncbi.nlm.nih.gov]
  • Blau syndrome A rare autosomal dominant MIM186580 condition characterised by early-onset granulomatous polyarthritis, uveitis, cranial neuropathies, and a red-brown papular rash. Crohn’s disease occurs in 30% of patients.[medical-dictionary.thefreedictionary.com]
  • rash 0007432 Iritis Inflammation of iris 0001101 Nongranulomatous uveitis 0007813 Tendonitis 0025230 Uveitis 0000554 Showing of 55 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
  • Gender (female:male) 13:9 Mean age at diagnosis 40.1 years (range 17-72) Mean disease duration 4.7 years (range 1-13) Ethnicity (white) 22/22 (100%) Familial 3/22 (13.6%) Weight loss 13/22 (59.1%) Fever 13/22 (59.1%) Skin disease 19/22 (86.4%) Arthritis/arthralgia[clevelandclinicmeded.com]
  • Joint pains There are often joint pains (arthralgias or arthritides), but generally NO tissue and cartilage changes can be seen on X rays.[autoinflammatory.org]
  • Corticosteroid treatment should be resumed for recurrence of symptoms and signs, including dyspnea, arthralgia, fever, hepatic insufficiency, cardiac arrhythmia, CNS involvement, hypercalcemia, ocular disease uncontrolled by local drugs, and disfiguring[merckmanuals.com]
  • Joint involvement: Large joints may be affected by arthritis or arthralgia in more than 50% of patients (chiefly knees, hips and ankles). These occur suddenly, and may be precipitated by minor trauma or effort, such as prolonged walking.[file.scirp.org]
Neurologic Manifestation
  • Ömer Faruk Aydin and Banu Anlar, Neurological Manifestations of Primary Immunodeficiency Diseases, Clinical Pediatrics, 10.1177/0009922817737083, (000992281773708), (2017). Leonardo A.[doi.org]
  • manifestations have been reported in familial and sporadic cases, especially in the form of cranial neuropathies and transient facial palsy. 31 Recently, in a patient carrying a G481D mutation, in addition to transient facial palsy, ischaemic stroke[rmdopen.bmj.com]


Joint Space Narrowing
  • X-rays of his both hands showed multiple and symmetric joint involvement, generalized osteoporosis, joint space narrowing, poorly defined edges of the articular surfer, subluxation, contracture and ankylosis of the PIP joints ( Figure 2E,F ).[molvis.org]
  • In the same study, other significant radiological findings were represented by biconcave radial epiphysis, abnormal plump distal ulna and dysplasia of the scaphoid and lunate bone. 11 Moreover, a high percentage of osteopenia and joint space narrowing[rmdopen.bmj.com]
Fibrinoid Necrosis
  • RESULTS: Biopsy specimens from patients with BS typically showed polycyclic granulomas with large lymphocytic coronas, extensive emperipolesis of lymphocytes within multinucleated giant cells (MGCs), MGC death, and fibrinoid necrosis and fibrosis.[ncbi.nlm.nih.gov]
Lymphocytic Infiltrate
  • We report a 3.5-year-old Japanese boy who developed lichenoid papules and erythema with noncaseating epithelioid cell granulomas with a scant lymphocytic infiltrate histologically on his limbs at the age of 8 months.[ncbi.nlm.nih.gov]
  • Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression.[ncbi.nlm.nih.gov]
  • Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression.[ncbi.nlm.nih.gov]


  • Ocular disease remained persistently active despite treatment with multiple different immunosuppressants; therefore, canakinumab treatment was started.[ncbi.nlm.nih.gov]


  • At follow up at 20 years of age (after 2-5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short-term prognosis of the disease.[ncbi.nlm.nih.gov]
  • Prognosis BS is a chronic and progressive disease with a variable and often unpredictable spectrum of severity. In cases with expanded manifestations, life expectancy may be reduced. Uveitis has a poor prognosis.[orpha.net]
  • However, the activity of the disease may fluctuate over time. 2.10 What is the long-term prognosis (predicted outcome and course) of the disease? The available data concerning the prognosis in the long-term is limited.[printo.it]
  • NOD2/CARD15 genotyping before transplantation may contribute to prognosis and influence clinical management. [ PMID 18756601 ] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.[snpedia.com]
  • Left ventricular non-compaction is a rare type of hereditary cardiomyopathy with a poor prognosis. Left ventricular non-compaction is characterized by the presence of multiple recesses in the ventricular myocardium.[abcore.com]


  • The aim of this study was to assess the efficacy of thalidomide in patients with severe EOS, based on etiology supporting an initial role of NF-kappaB in activation of this disease.[ncbi.nlm.nih.gov]
  • These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-κB activation. Submitted August 2, 2004. Accepted September 27, 2004.[bloodjournal.org]
  • Etiology BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.[orpha.net]
  • Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. Epub 2004 Sep 30.[ghr.nlm.nih.gov]


  • Summary Epidemiology Exact prevalence is unknown.[orpha.net]
  • A review of epidemiology, pathophysiology, and therapeutic implications, Inflammatory Bowel Diseases, 10, 6, (848-859), (2006).[doi.org]
  • Previous epidemiologic studies have shown that mutations in the NOD2/CARD15 gene are extremely rare outside the white population. 8 Second, our observed rates of GVHD were also lower than earlier studies, which may reflect our exclusion of any donor-recipient[bloodjournal.org]
  • The genetic basis of CD remains unknown, but epidemiological studies consistently suggest an inherited basis to the disease, and more recently, a genetic locus was identified on chromosome 16 (3) , which harbored a gene known as NOD2/CARD15 .[cancerres.aacrjournals.org]
  • Discussion Epidemiological and linkage studies suggest that genetic factors play a significant role in determining CD susceptibility [ 6 - 9 ], among these the most associated is NOD2/CARD15 gene [ 10 , 11 , 13 - 17 ].[omicsonline.org]
Sex distribution
Age distribution


  • Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome.[ncbi.nlm.nih.gov]
  • Even though specific treatment based on pathophysiologic mechanism has not been explored yet, early diagnosis will prevent the progression to severe impairment, which can severely affect patients' lives.[jstage.jst.go.jp]
  • A review of epidemiology, pathophysiology, and therapeutic implications, Inflammatory Bowel Diseases, 10, 6, (848-859), (2006).[doi.org]
  • This work therefore offers an insight into the molecular pathophysiology of these autoinflammatory disease.[paduaresearch.cab.unipd.it]


  • There is no established therapy for the management of BS and EOS, and the main treatment aim is to prevent ocular manifestations entailing the risk of potential blindness and to avoid joint deformities.[ncbi.nlm.nih.gov]
  • Even though specific treatment based on pathophysiologic mechanism has not been explored yet, early diagnosis will prevent the progression to severe impairment, which can severely affect patients' lives.[jstage.jst.go.jp]
  • This gene produces a protein which is part of the body’s immune system, helping to prevent foreign invaders from damaging the body. When the NOD2 gene is affected, that response is overactive, causing the severe inflammation, pain and skin rash.[skinsite.com]
  • Saito added the study implies that preventing IFN-γ activation could benefit patients. "Blocking IFN-γ signaling could be a potential treatment for managing chronic inflammation."[cira.kyoto-u.ac.jp]
  • Mahbub , Hidekazu Takahashi , Ryosuke Hase , Yasutaka Ishimaru , Hiroshi Sunagawa , Rie Watanabe , Yoshinobu Eishi & Tsuyoshi Tanabe Environmental Health and Preventive Medicine (2017)[nature.com]

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