Paula and Bobby
Parents of Lillie
Autoinflammatory syndrome, familial, Behcet-like; AISBL
What is Autoinflammatory syndrome, familial, Behcet-like; AISBL?
Autoinflammatory syndrome, familial, Behcet-like; AISBL is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Zhou et al. (2017) reported heterozygous germline mutations in TNFAIP3 in 14 patients from six unrelated families with systemic inflammatory disorder. The disorder resembled Behçet's disease. The symptoms became apparent in infancy, childhood or adulthood (in one patient). Affected individuals had mucosal ulcers, especially oral and genital ulcers but also oropharyngeal and colonic ulcers, polyarthritis, macular or follicular skin rash and uveitis. Autoantibodies were positive in some, sometimes accompanied by hemolytic anemia and immune thrombocytopenia. Lymphadenopathy and diffuse skin rash were also observed. Some of the patients responded to treatment with colchicine or TNF inhibitors.
Takagi et al. (2017) described a male patient with autoimmune lymphoproliferative syndrome due to heterozygous protein-truncating mutation in the TNFAIP3 gene. Clinical characteristics included fever with increased c-reactive protein, transient liver dysfunction, cervical lymphadenopathy with node swelling, cutaneous rash, hepatosplenomegaly, thrombocytopenia, and marked hypergammaglobulinemia.
* This information is courtesy of the L M D.
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What gene changes cause Autoinflammatory syndrome, familial, Behcet-like; AISBL?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 616744 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
TNFAIP3 - 6q23.3
What are the main symptoms of Autoinflammatory syndrome, familial, Behcet-like; AISBL?
The typical symptoms of the syndrome are:
How does someone get tested for Autoinflammatory syndrome, familial, Behcet-like; AISBL?
The initial testing for Autoinflammatory syndrome, familial, Behcet-like; AISBL can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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