TY - JOUR ID - 99406 TI - First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection JO - Immunology and Genetics Journal JA - IGJ LA - en SN - AU - Momen, Tooba AU - Alborzi, Abdolvahab AU - Eslamian, Mohammad Hossein AU - Casanova, Jean-Laurent AU - picard, Capucine AD - Department of Allergy and Clinical Immunology, Isfahan University of Medical Sciences, Isfahan, Iran. AD - Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. AD - Allergy and clinical immunology division, Department of pediatrics, Hamadan University of medical science, Hamadan, Iran. AD - St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, NY, USA. AD - Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Necker Medical School, Paris Descartes University, Sorbonne Paris Cité, France. Y1 - 2019 PY - 2019 VL - 2 IS - 4 SP - 213 EP - 220 KW - NF-κB essential modulator essential modulator (NEMO) KW - Immunodeficiency KW - recurrent infections DO - 10.22034/igj.2019.212831.1031 N2 - 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. UR - http://www.igjournal.ir/article_99406.html L1 - http://www.igjournal.ir/article_99406_0e1f3d6da5ed8aaf79c75472e9bd2f16.pdf ER -