Description

The Bare Lymphocyte Syndrome (BLS) is a group of disorders affecting HLA molecules and resulting in an immunodeficiency. The TAP deficiency syndrome is a result of a defective TAP complex.


 

The TAP complex:

(1) is a peptide transporter associated with antigen presentation

(2) is composed of 2 subunits (TAP1 and TAP2)

 

Clinical features:

(1) chronic and recurrent infections

(1a) chronic sinusitis

(1b) otitis media

(1c) mastoiditis

(1d) chronic bronchitis

(1e) recurrent bacterial pneumonia

(1f) cerebral abscess

(1g) encephalomyelitis

(1h) chronic gastritis

(1i) pseudomembranous colitis

(2) vasculitis

(2a) leukocytoclastic vasculitis

(2b) retinal vasculitis

(3) skin lesions

(3a) symmetrical purpura on arms and legs

(3b) destruction of midline facial structures around the nose

(3c) nodular or plaque-like dermal infiltrates

(3d) necrotizing granulomatous skin lesions

(4) upper and lower respiratory tract problems

(4a) nasal discharge and postnasal drip

(4b) nasal inflammatory polyps

(4c) ulcerations of the nasal septum

(4d) bronchiectasis

(5) non-erosive symmetrical polyarthritis

 

Differential diagnosis:

(1) Wegener's granulomatosis

(2) other forms of vasculitis

(3) cocaine abuse

(4) other forms of immunodeficiency

 


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