KEGG   DISEASE: Ectodermal dysplasia associated immunodeficiency
H00095                      Disease                                

Ectodermal dysplasia associated immunodeficiency
NF-kappa-B essential modulator (NEMO) defect
Inhibitor of kappa-B (I-kappa-B) defect
Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) the patient has no sweat glands, sparse scalp hair and rare conical teeth. Patients with EDA and immunodeficiency (EDA-ID) present some or all of these features, together with severe infectious diseases. EDA-ID principally affects boys, suggesting X-linked recessive inheritance (XL-EDA-ID). This was confirmed in 2000 and beyond with the identification of disease-causing hypomorphic mutations in NEMO, which is located on the X chromosome and encodes IKK-gamma. A novel autosomal dominant of EDA-ID, recently identified in one child, was found to be caused by a hypermorphic mutation of the gene encoding I{kappa}B{alpha}. Similar to XL-EDA-ID patients, from the age of two months he suffered from multiple and severe infections with several Gram-positive and Gram-negative bacteria, leading to chronic bronchopneumonitis and gastroenteritis, with failure to thrive.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00095  Ectodermal dysplasia associated immunodeficiency
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00095  Ectodermal dysplasia associated immunodeficiency
hsa05340  Primary immunodeficiency
IKBKG [HSA:8517] [KO:K07210]
IKBA [HSA:4792] [KO:K04734]
Other DBs
ICD-11: LD27.0Y
ICD-10: D82.8
MeSH: C567411 C536181
OMIM: 612132 300291
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Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
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Immunol Allergy Clin North Am 28:387-412, x (2008)
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
J Allergy Clin Immunol 120:776-94 (2007)

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