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Correspondence |

A Novel Mutation in the TAP2 Gene in Bare Lymphocyte Syndrome: Association With Metastatic Cutaneous Squamous Cell Carcinoma

Agustín España, MD; Cecilia González-Santesteban, PhD; Laura Martínez-Martínez, PhD; Ana Bauzá, MD; Oscar de la Calle-Martín, PhD
Arch Dermatol. 2010;146(1):96-98. doi:10.1001/archdermatol.2009.354.
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Bare lymphocyte syndrome (BLS) is a rare disease characterized by a severe reduction in the cell surface expression of HLA molecules (HLA class I, type I BLS; HLA class II, type II BLS). Patients with BLS-I present with bronchiectasias and skin ulcers associated with granulomatous inflammation.1,2 Synthesis of HLA class I molecules includes transportation of cytoplasmic peptides into the endoplasmic reticulum by the transporter-associated antigen-processing (TAP) heterodimers (TAP1 and TAP2). Peptide-loaded HLA class I molecules may interact with cytotoxic CD8+ T cells, natural killer (NK) cells, and γδ T cells.3 Patients with BLS-I, who have a defective TAP complex, may have 1 of 4 different mutations. Tissue typing and molecular analysis of 15 patients demonstrated that they were homozygous for a defective TAP1 or TAP2 mutation.4

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Figure 1

Clinical and histopathologic images. A, Extensive plaque and ulcers on the lower right limb. B, Necrotizing granulomas involving dermis and hypodermis (hematoxylin-eosin, original magnification ×20). C, Histiocytes, multinucleate cells, and lymphocytes are present in the infiltrate (hematoxylin-eosin, original magnification ×40). D, Large ulcerated tumor on the right lower limb. E, Histologic findings of squamous cell carcinoma (hematoxylin-eosin, original magnification ×40).

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Figure 2

Sequence analysis of the TAP2 gene. Detection of the mutation from genomic DNA was performed by polymerase chain reaction amplification of TAP2 exon 3 for the patient (A) (mutant homozygous), a daughter (B) (heterozygous), and a healthy control (C) (native sequence).

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