Title of article :
First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection
Author/Authors :
Momen ، Tooba Department of Allergy and Clinical Immunology - Isfahan University of Medical Sciences , Alborzi ، Abdolvahab Clinical Microbiology Research Center - Shiraz University of Medical Sciences , Eslamian ، Mohammad Hossein Department of pediatrics - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center - tehran University of medical science , Casanova ، Jean-Laurent St Giles Laboratory of Human Genetics of Infectious Diseases - Rockefeller University, Rockefeller Branch , picard ، Capucine Laboratory of Human Genetics of Infectious Diseases - Necker Medical School - Paris Descartes University, Necker Branch
Abstract :
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.
Keywords :
NF , κB essential modulator essential modulator (NEMO) , immunodeficiency , recurrent infections
Journal title :
Immunology and Genetics Journal
Journal title :
Immunology and Genetics Journal
