Document Type: Case Report
Department of Allergy and Clinical Immunology, Isfahan University of Medical Sciences, Isfahan, Iran.
Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Allergy and clinical immunology division, Department of pediatrics, Hamadan University of medical science, Hamadan, Iran.
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Necker Medical School, Paris Descartes University, Sorbonne Paris Cité, France.
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.