We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion ...We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophgeal re- flux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/ angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non- steroidal anti- inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome.展开更多
Objective: To evaluate an association between cytokine production with common dietary proteins as a marker of non-allergic food hypersensitivity (NFH) and ga strointestinal (GI) symptoms in young children with autism ...Objective: To evaluate an association between cytokine production with common dietary proteins as a marker of non-allergic food hypersensitivity (NFH) and ga strointestinal (GI) symptoms in young children with autism spectrum disorders (ASD). Study design: Peripheral blood mononuclear cells (PB MCs)-were obtained from 109 ASD children with or without GI symptoms (GI [+] A SD, N = 75 and GI (-) ASD, N = 34], from children with NFH (N = 15), and contro l subjects (N = 19). Diarrhea and constipation were the major GI symptoms. We me asured production of type 1 T-helper cells (Th1), type 2 T-helper cells (Th2), and regulatory cytokines by PBMCs stimulated with whole cow’s milk protein (CM P), its major components (casein, β-lactoglobulin, and α-lactoalbumin), glia din, and soy. Results: PBMCs obtained from GI (+) ASD children produced more tu mor necrosis factor-α(TNF-α)/interleukin-12 (IL-12) than those obtained fr om control subjects with CMP, β-lactoglobulin, and α-lactoalbumin, irrespect ive of objective GI symptoms. They also produced more TNF-αwith gliadin, which was more frequently observed in the group with loose stools. PBMCs obtained fro m GI (-) ASD children produced more TNF-α/IL-12 with CMP than those from con trol subjects, but not with β-lactoglobulin, α-lactoalbumin, or gliadin. Cyt okine production with casein and soy were unremarkable. Conclusion: A high preva lence of elevated TNF-α/IL-12 production byGI (+)ASDPBMCs with CMP and its m ajor components indicates a role of NFH in GI symptoms observed in children with ASD.展开更多
文摘We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophgeal re- flux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/ angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non- steroidal anti- inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome.
文摘Objective: To evaluate an association between cytokine production with common dietary proteins as a marker of non-allergic food hypersensitivity (NFH) and ga strointestinal (GI) symptoms in young children with autism spectrum disorders (ASD). Study design: Peripheral blood mononuclear cells (PB MCs)-were obtained from 109 ASD children with or without GI symptoms (GI [+] A SD, N = 75 and GI (-) ASD, N = 34], from children with NFH (N = 15), and contro l subjects (N = 19). Diarrhea and constipation were the major GI symptoms. We me asured production of type 1 T-helper cells (Th1), type 2 T-helper cells (Th2), and regulatory cytokines by PBMCs stimulated with whole cow’s milk protein (CM P), its major components (casein, β-lactoglobulin, and α-lactoalbumin), glia din, and soy. Results: PBMCs obtained from GI (+) ASD children produced more tu mor necrosis factor-α(TNF-α)/interleukin-12 (IL-12) than those obtained fr om control subjects with CMP, β-lactoglobulin, and α-lactoalbumin, irrespect ive of objective GI symptoms. They also produced more TNF-αwith gliadin, which was more frequently observed in the group with loose stools. PBMCs obtained fro m GI (-) ASD children produced more TNF-α/IL-12 with CMP than those from con trol subjects, but not with β-lactoglobulin, α-lactoalbumin, or gliadin. Cyt okine production with casein and soy were unremarkable. Conclusion: A high preva lence of elevated TNF-α/IL-12 production byGI (+)ASDPBMCs with CMP and its m ajor components indicates a role of NFH in GI symptoms observed in children with ASD.
