UNASSIGNED: This study examined the pathogenesis of @entity6818 ( @entity6818 ) in a @entity1 with a rare @entity6820 mutation and surveyed the literature to identify the hallmark features for early diagnosis. An @entity1 @entity1 suffering from prolonged @entity221 and @entity1910 of multiple pinkish papules and subsequent @entity5406 was referred to our institution. Skin biopsy and DNA sequencing were performed along with cytokine profiling of the patient's serum and stimulated mononuclear cells. NF-kB activation was analyzed using transfected cells. Multiple non-caseating @entity738 inclusions were recognized in biopsy specimens obtained from the @entity1 's @entity1910 . DNA sequencing revealed a very rare heterozygous @entity68899 ( @entity68899 ) mutation in @entity6820 . Mononuclear cells produced a low amount of @entity1356 upon stimulation as compared with normal control cells. Mutated @entity6820 transfection enhanced NF-kB activation. We suspected that the @entity68899 mutation in @entity6820 decreased @entity1356 production and enhanced NF-kB activation, which was likely responsible for the @entity1 's @entity738 involvement. A comprehensive review of the literature on 30 cases of sporadic type of @entity6818 revealed that all @entity1 had cutaneous manifestations, with all but one displaying granulation. A majority of @entity6818 @entity1 have @entity27497 /Q. But about half of sporadic @entity6818 had @entity6820 mutations other than @entity27497 /Q, as in the present case. Accordingly, @entity1910 with @entity738 formation and specific @entity6820 mutations may represent early diagnostic hallmarks of @entity6818 in @entity1 with persistent @entity32 .

Early diagnosis of XXXX : a case report with functional analysis and review of the literature.

@entity1 :: ('9606', 'Species') :: ['girl', 'patients', 'patient', 'infants', 'infant'] @entity32 :: ('MESH:D007249', 'Disease') :: ['inflammation'] @entity1910 :: ('MESH:D005076', 'Disease') :: ['rash', 'skin rash'] @entity738 :: ('MESH:D006099', 'Disease') :: ['granuloma'] @entity1356 :: ('3553', 'Gene') :: ['IL-1b'] @entity6820 :: ('64127', 'Gene') :: ['NOD2'] @entity27497 :: ('p|SUB|R|334|W', 'ProteinMutation') :: ['R334W'] @entity6818 :: ('MESH:C563714', 'Disease') :: ['EOS', 'early-onset sarcoidosis'] @entity221 :: ('MESH:D005334', 'Disease') :: ['fever'] @entity68899 :: ('p|SUB|M|513|T', 'ProteinMutation') :: ['M513T', 'Met513Thr'] @entity5406 :: ('MESH:D004893', 'Disease') :: ['erythema nodosum']
@entity6818 :: (MESH:C563714,Disease) :: ['early-onset sarcoidosis']
