Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
T Niehues, J Reichenbach, J Neubert… - Journal of allergy and …, 2004 - Elsevier
BACKGROUND: Amorphic mutations in the X-linked nuclear factor κB essential modulator
(NEMO) gene cause Incontinentia pigmenti, which is lethal in hemizygous male patients.
Hypomorphic NEMO mutations in male patients lead to anhidrotic ectodermal dysplasia
(EDA) with immunodeficiency. OBJECTIVE: To report the clinical features of a child bearing
a NEMO mutation who displayed an immunodeficiency without EDA. METHODS:
Documentation of clinical care, chart review, standard immunologic and microbiological …
(NEMO) gene cause Incontinentia pigmenti, which is lethal in hemizygous male patients.
Hypomorphic NEMO mutations in male patients lead to anhidrotic ectodermal dysplasia
(EDA) with immunodeficiency. OBJECTIVE: To report the clinical features of a child bearing
a NEMO mutation who displayed an immunodeficiency without EDA. METHODS:
Documentation of clinical care, chart review, standard immunologic and microbiological …
