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Prepublished online as a Blood First Edition Paper on August 8, 2002; DOI 10.1182/blood-2002-02-0433.
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Blood, 1 December 2002, Vol. 100, No. 12, pp. 4234-4235
BRIEF REPORT
Correction of complete interferon- receptor 1 deficiency
by bone marrow transplantation
Ursula Reuter,
Joachim Roesler,
Christian Thiede,
Ansgar Schulz,
Carl Friedrich Classen,
Uta Oelschlägel,
Klaus-Michael Debatin, and
Wilhelm Friedrich
From the University Children's Hospital Ulm, Ulm,
Germany; University Children's Hospital Dresden and
University Medical Hospital Dresden, Dresden, Germany.
Complete interferon- receptor 1 (IFNR1)
deficiency is a primary immunodeficiency disease characterized by high
susceptibility to recurrent, severe mycobacterial and other
intracellular infections. We here report the first successful treatment
of the disorder by bone marrow transplantation (BMT). The 8-year-old
girl had suffered from recurrent mycobacterial infections in the past
and had developed liver cirrhosis with portal hypertension. For
conditioning, fractionated total body irradiation (TBI) was used in
combination with cyclophosphamide and antithymocyte globulin (ATG). The
patient received red cell-depleted bone marrow from her HLA-identical sister. The transplantation course was uneventful and 4 years later,
the child remains in excellent clinical condition and free of
mycobacterial infections. She has stable mixed lymphohematopoietic chimerism after repeat T-cell transfusions. Liver disease has not
further deteriorated. This experience shows that correction of IFNR1
deficiency is possible by BMT and complications of the disease can be controlled.
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