Netherton syndrome

Defects in SPINK5 are the cause of Netherton syndrome (NS). SPINK5 encode the serine protease inhibitor LEKTI and has a role in epidermal barrier function and immunity. LEKTI is involved in skin disorder or hair morphogenesis and has also a specific role in thymus. NS is a severe autosomal recessive disorder, but cases of X-linked have been described also. It has been observed almost only in females.

Alternative names


Trichorrhexis Invaginata

Netherton disease

Bamboo Hair


  • Other well-defined immunodeficiency syndromes? Immunodeficiency with dermatological defects


Autosomal recessive / X-linked


#256500 Netherton syndrome; NETH

*605010 Serine protease inhibitor, Kazal-type, 5; SPINK5

Cross references

Phenotypically related immunodeficiencies



Incidence is not known.