Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa
نویسندگان
چکیده
منابع مشابه
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.
IMPORTANCE Mutations in the CERC1 gene associated with deficiency in the ADA2 protein (DADA2) have been implicated in the pathogenesis of cutaneous polyarteritis nodosa (cPAN) and early-onset vasculopathy. DADA2 is not only limited to cPAN and vasculopathy but also includes immunodeficiency that affects several cellular compartments, including B cells; however, some patients appear to have a mo...
متن کاملMonogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience
Patients and methods We used next generation (NGS) and Sanger sequencing to study select paediatric cases of PAN. Inclusion criteria were: 1. Onset of PAN <age-10-years; 2. Suspected familial PAN; 3. Sporadic PAN particularly with neurological involvement; and 4. Clinical features resembling the recent description of deficiency of ADA2 (DADA2). Whole exome sequencing was performed using a comme...
متن کاملCutaneous polyarteritis nodosa*
Polyarteritis nodosa is a rare vasculitis in children characterized by necrotizing inflammation in small and medium size arteries. It is classified into systemic and cutaneous PAN according to the presence of systemic symptoms or visceral involvement. We describe the case of a 14-year-old girl with cutaneous Polyarteritis nodosa with an atypical clinical presentation.
متن کامل[Cutaneous polyarteritis nodosa].
Classic polyarteritis nodosa (PAN) is a segmentary leucocytoclastic vasculitis that affects small- and medium-sized arteries. In 1931, Lindberg (Acta Med Scand 1931; 76: 183-225) described the existence of a cutaneous variant of PAN, without visceral involvement and with a more favourable prognosis. We present four patients diagnosed with cutaneous PAN in our hospital between 1987 and 1998. The...
متن کامل[Childhood cutaneous polyarteritis nodosa].
Cutaneous polyarteritis nodosa is an infrequent necrotizing vasculitis of small and medium-sized arteries, with a recurrent and chronic course, that can be associated with fever, arthralgia, myalgia and neuropathy without visceral involvement. We report a cutaneous polyarteritis nodosa case.
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ژورنال
عنوان ژورنال: JAMA Dermatology
سال: 2015
ISSN: 2168-6068
DOI: 10.1001/jamadermatol.2015.1635