A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review

Jindal, Ankur Kumar; Pilania, Rakesh Kumar; Suri, Deepti; Gupta, Anju; Gattorno, Marco; Ceccherini, Isabella; Kumar, Nitin; Bansal, R; Nada, Ritambhra; Singh, Surjit

doi:10.1007/s00296-019-04316-6

Cited by 22 publications

(30 citation statements)

References 29 publications

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“…On admission, his physical examination revealed the presence of 3/6 systolic heart murmur, mild hepatomegaly, malnutrition with low body mass index(12.8 kg/m 2 , <2 standard deviation), tenosynovitis of both wrists, as well as a fine, macular, tan-colored, pigmented rash on the extremities (►Fig. 1). Ophthalmology testing highlighted the presence of an old, bilateral anterior and posterior uveitis with concurrent mild flare in the left eye as well as elevation of intraocular pressure bilaterally.…”

Section: Case Reportmentioning

confidence: 99%

“…Blau's syndrome (BS) is a rare, monogenic autoinflammatory disease with an autosomal dominant inheritance pattern, 1,2 although sporadic cases caused by de novo mutations have also been described. The syndrome's prevalence is estimated at <1: 10 6 , but due to its rarity as well as the relatively short interval time since it was first described (1985), 2 both its incidence, exact epidemiology and natural course remain mostly unknown.…”

Section: Introductionmentioning

confidence: 99%

“…2,7 However, as further cases of BS are described, novel reports of involvement of various systems have emerged. [1][2][3]5,[7][8][9][10][11] Limited reports of vascular insult exist, 8 with a total of seven available references, mainly in the form of Takayasu's arteritis. 9,10 Herein, we describe a case of BS with Takayasu's arteritis lesions in an Afghan patient.…”

Section: Introductionmentioning

confidence: 99%

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Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Bikouli

Vazeou

Xatzipsalti

et al. 2021

Journal of Child Science

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Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease, usually presenting as a triad of symptoms (granulomatous dermatitis, uveitis, and nonerosive arthritis) and caused by gain-of-function mutations in the nucleotide oligomerization domain 2 (NOD2) gene. However, very few reports in children of copresence of BS with large vessel vasculitis exist. We hereby describe a case of BS associated with clinical features of Takayasu arteritis. An 8.5-year-old boy presented with hypertension, cardiac insufficiency, arthritis, and ocular disease. Among other investigations, he underwent cervical and chest computed tomography and computed tomography angiography scans that revealed the presence of type IIa Takayasu arteritis lesions. Genetic analysis revealed a heterozygous mutation of NOD2 gene leading to the amino acid exchange Arg-587-Cys in the NACHT domain of the NOD2 protein (R587C) as pathogenic cause of BS. He received treatment with prednisolone, methotrexate, and infliximab (antitumor necrosis factor-α) in addition to antihypertensive medication with a favorable clinical response. Cases of BS should be investigated for the coexistence of Takayasu arteritis. However, further research is required to delineate a possible common pathogenic mechanism between the two clinical entities.

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Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Bikouli

Vazeou

Xatzipsalti

et al. 2021

Journal of Child Science

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“…More recently, biologic agents such as tumor necrosis factor alpha (TNF-α) blockers, interleukin (IL)-1, and IL-6 receptor inhibitors have demonstrated effectiveness in refractory cases. 8 – 10 …”

Section: Introductionmentioning

confidence: 99%

Clinical and immunological study of Tofacitinib and Baricitinib in refractory Blau syndrome: case report and literature review

Álvarez-Reguera

Prieto-Peña

Herrero-Morant

et al. 2022

Therapeutic Advances in Musculoskeletal

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Blau syndrome (BS) is an autoinflammatory disorder characterized by non-caseating granulomatous dermatitis, arthritis, and uveitis. We present a case of refractory and severe BS that was treated with the Janus kinase inhibitors (JAKINIBS), Tofacitinib (TOFA) and then Baricitinib (BARI). Our aim was to describe the clinical and immunological outcomes after treatment with JAKINIBS. Blood tests and serum samples were obtained during follow-up with TOFA and BARI. We assessed their effects on clinical outcomes, acute phase reactants, absolute lymphocyte counts (ALCs), lymphocyte subset counts, immunoglobulins, and cytokine levels. A review of the literature on the use of JAKINIBS for the treatment of uveitis and sarcoidosis was also conducted. TOFA led to a rapid and maintained disease control and a steroid-sparing effect. A decrease from baseline was observed in ALC, CD3+, CD4+, CD8+, and natural killer (NK) cell counts. B-cells were stable. Serum levels of interleukin (IL)-4 and tumor necrosis factor alpha (TNF-α) increased, whereas IL-2, IL-6, IL-10, and IL-17 maintained stable. TOFA was discontinued after 19 months due to significant lymphopenia. The initiation of BARI allowed maintaining adequate control of disease activity with an adequate safety profile. The literature review showed seven patients with uveitis and five with sarcoidosis treated with JAKINIBS. No cases of BS treated with JAKINIBS were found. We report the successful use of JAKINIBS in a patient with refractory and severe BS.

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“…Further, molecular insights of these disorders have provided the basis for new therapeutic interventions leading to improved outcomes and long-term survivals. There is paucity of data on SAID from India with published literature comprising of only anecdotal case reports (14)(15)(16)(17)(18)(19)(20)(21). In this manuscript we describe clinical features, molecular profile, treatment and outcome in patients with monogenic SAID from six centers in our country.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

et al. 2021

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Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation.Objective: To describe spectrum of clinical, immunological, molecular features, and outcomes of patients with SAID in India.Methods: Request to share data was sent to multiple centers in India that are involved in care and management of patients with Inborn Errors of Immunity. Six centers provided requisite data that were compiled and analyzed.Results: Data on 107 patients with SAID were collated—of these, 29 patients were excluded due to unavailability of complete information. Twelve patients (15%) had type 1 interferonopathies, 21 (26%) had diseases affecting inflammasomes, 30 patients (41%) had non-inflammasome related conditions and 1five patients (19%) had Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA). Type1 interferonopathies identified in the cohort included patients with Deficiency of Adenosine Deaminase 2 (DADA2) (six patients; five families); STING-associated vasculopathy infantile-onset (SAVI) (three patients, one family); Spondyloenchondro-dysplasia with Immune Dysregulation (SPENCD) (two patients). Diseases affecting inflammasomes include Mevalonate Kinase Deficiency (eight patients); Cryopyrin-Associated Periodic Syndromes (CAPS) (seven patients); NLR Family, Pyrin domain-containing 12 (NLRP12) (two patients); Familial Mediterranean fever (FMF) (two patients); Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) (two patients). TNF receptor-associated periodic syndrome (TRAPS) (three patients); A20 haploinsufficiency (four patients); Deficiency of Interleukin 1 Receptor Antagonist (DIRA) (two patients) were categorized as non-inflammasome related conditions. There were significant delays in diagnosis Corticosteroids and other immunosuppressive agents were used for treatment as anti-IL-1 drugs and other biological agents were and still are not available in India. Eight (16.3%) patients had so far succumbed to their illness.Conclusions: This is the first nationwide cohort of patients with SAID from India. Clinical manifestations were diverse. Overlapping of clinical features with other relatively common rheumatological disorders often resulted in delays in diagnosis. More nationwide efforts are needed to enhance awareness of SAID among health care professionals and there is an urgent need to make targeted immunotherapies universally available.

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A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review

Cited by 22 publications

References 29 publications

Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Clinical and immunological study of Tofacitinib and Baricitinib in refractory Blau syndrome: case report and literature review

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

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