2007
DOI: 10.1001/archderm.143.3.386
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Widespread Granulomatous Dermatitis of Infancy

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Cited by 43 publications
(19 citation statements)
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“…The dysregulated hyperinflammation in this Rag 1-deficient phenotype expands the currently known Rag-deficient clinical spectrum ( Figure 6). Granulomas have been reported in primary immunodeficiencies, including chronic granulomatous disease, 20 Blau syndrome, 14 Rag1/Rag2, 21 common variable immunodeficiency, 22,23 and Nijmegen syndrome, 24 although generally not associated with extensive tissue destruction as observed in patient P.…”
Section: Discussionmentioning
confidence: 83%
See 1 more Smart Citation
“…The dysregulated hyperinflammation in this Rag 1-deficient phenotype expands the currently known Rag-deficient clinical spectrum ( Figure 6). Granulomas have been reported in primary immunodeficiencies, including chronic granulomatous disease, 20 Blau syndrome, 14 Rag1/Rag2, 21 common variable immunodeficiency, 22,23 and Nijmegen syndrome, 24 although generally not associated with extensive tissue destruction as observed in patient P.…”
Section: Discussionmentioning
confidence: 83%
“…Up to 30% of normal Rag1 activity has been reported from some hypomorphic Rag mutations. 21 The residual recombinase activity in this patient's cells may explain his relatively mild phenotype that permits adequate recombination to generate overall normal numbers of lymphocytes, including sufficient B cells to produce normal numbers of B cells and specific antibody production. It is of interest that his IgG2 and IgG4 subclasses were deficient, and his response to polysaccharide vaccines was impaired.…”
Section: Discussionmentioning
confidence: 94%
“…[40][41][42][43] Skin examination reveals nonpruritic, generalized, densely populated erythematous papules. 44,45 Recalcitrant, tender leg ulcers with granulating bases and poorly demarcated flat borders have been described (in contrast to the well-defined undermined borders of PG ulcers). 46 Histopathology reveals noncaseating granulomata.…”
Section: Blau Syndromementioning
confidence: 99%
“…46 Histopathology reveals noncaseating granulomata. 44,45,47 Granulomatous infiltration of the lungs, kidneys, liver, and of the arterial and nervous systems may also occur. [48][49][50][51][52] Missense mutations in the CARD15 (caspaserecruiting domain 15) gene, also known as NOD2 (nucleotide-binding oligomerization domain) gene, are responsible for Blau syndrome.…”
Section: Blau Syndromementioning
confidence: 99%
“…Despite the increasing use of genetic testing, the real prevalence of BS and EOS remains unknown: both familial and sporadic forms have been reported in Caucasians [46,55,70,85,98], Spanish [72], Asian [47,51,69,87], and American [61,75,83] individuals. Rough incidence data could be derived from analysis of a total of 48 Danish childhood-onset sarcoidosis patients, obtained from a nationwide patient registry during the period 1979-1994, and estimating that sarcoidosis incidence per 100,000 person/year was 0.06 for children under 5 and 0.10 for those between 5 and 9 years of age.…”
Section: The Epidemiologic Factsmentioning
confidence: 99%