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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Immunodeficiency,NF-κB essential modulator essential modulator (NEMO),recurrent infections
- چکیده:
- چکیده انگلیسی: NEMO (NF-κB essential modulator) is a regulatory factor involved in signaling pathways of innate and adaptive immune system. Hypomorphic mutation of IKBKG gene on X chromosome leads to X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency. The affected boys presented developmental phenotype with hypotrichosis, hypohidrosis; hypodontia with conical incisors; and susceptibility to pyogenic bacteria, mycobacteria, and viruses. Most of them have impaired antibody response to polysaccharide antigens. Here, we presented the case report of 7 years old Iranian boy with NEMO-deficiency and unusual Aspergillus infection.
- انتشار مقاله: 27-07-1398
- نویسندگان: Tooba Momen,Abdolvahab Alborzi,Mohammad Hossein Eslamian,Jean-Laurent Casanova,Capucine Picard
- مشاهده