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AB1123 Chilblain-like skin lesions, ILD and immunodeficiency - therapeutic dilemma of immunosuppression vs. restoration of T-cell function
  1. C. Schuetz1,
  2. V. Mohr2,
  3. M. Honig1,
  4. K.-M. Debatin1,
  5. W. Friedrich1,
  6. A. Schulz1
  1. 1Pediatrics
  2. 2Pedjatrics, Ulm University, Ulm, Germany

Abstract

Background We report a 13 y/o girl with chronic interstitial lung disease, chilblain-like lesions and a history of severe CMV infection with pneumonitis at 5 months of age. Deterioration of lung function could not be controlled with immunosuppressive regimens resulting in pulmonary hypertension at age 12.

Objectives Case description and discussion of therapeutic strategies.

Methods Case report.

Results The patient is the fourth child of consanguineous parents of Turkish descent. She was referred to us with a chronic recurrent CMV-infection and a history of chilblain-like skin lesions of the ear lobes, cheeks, heels and on thighs. Antiviral therapy resulted in partial resolution of her CMV-infection with ongoing pneumonitis and temporary oxygen requirements. On immunological work-up T- and B-cell numbers were normal with production of specific immunoglobulins, but no antigen-specific T-cell function as well as impairment of stimulated IL-2, IFNg, but not TNFa secretion. Vaccination titers were normal. ANA titers were elevated between 1:320-640, low titers of antiphospholipid antibodies and PR3a antibodies at the upper limit of normal were measured. There was no evidence of cryoglobulins. Lung biopsy showed interstitial lung disease with lymphofollicular changes and predominance of macrophages (ages 2 and 6). Genetic analyses for an underlying primary immunodeficiency including ADA, PNP, JAK-3 deficiencies showed no mutations. Alpha1-antitrypsin deficiency was excluded. No mutations were found in TREX-1, a gene described in the context of both familiar chilblain lupus and SLE.

Hematopoietic stem cell transplantation from her HLA-identical sister at 20 months of age without preconditioning regimen had resulted in non-engraftment. Stabilization of her lung function following antiviral treatment and later on hydroxycholorquine and steroid pulses could be achieved. However, over the years, pulmonary function deteriorated leading to pulmonary hypertension. The patient is stable under regular oxygen supply and sildenafil. Her skin lesions are not active, there have never been signs of myositis.

Conclusions We present a girl with chronic interstitial lung disease, chilblain-like skin lesions and unspecified T-cell deficiency. It is debatable whether stronger immunosuppresive therapy or restoration of immunological function should guide future management of her disease.

Disclosure of Interest None Declared

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