Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
作者： MA Broom , LL Wang , SK Otta , AP Knutsen , E Siegfried
DOI: 10.1111/J.1399-0004.2006.00592.X
关键词:
摘要: The ATP-dependent DNA helicase Q4 (RECQL4) belongs to a family of conserved RECQ helicases that are felt be important in maintaining chromosomal integrity (Kitao et al., 1998, Genomics: 54 (3): 443-452). Deletions the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk malignancy. We present patient molecularly confirmed diagnosis RTS two unique genetic alterations (IVS16-2A>T IVS2+27_51del25), who at age 7 months nearly succumbed Pneumocystis carinii pneumonia. Evaluation his immune system demonstrated T- B+ NK- phenotype agammaglobulinemia consistent combined immunodeficiency (CID). Studies evaluate for known causes CID were not revealing. received umbilical cord blood (UCB) transplant complete reconstitution. This report represents first description UCB transplantation RTS.
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