First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection

Document Type: Case Report


1 Department of Allergy and Clinical Immunology, Isfahan University of Medical Sciences, Isfahan, Iran.

2 Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

3 Allergy and clinical immunology division, Department of pediatrics, Hamadan University of medical science, Hamadan, Iran.

4 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, NY, USA.

5 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.