Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. Clin Genet 2006 Apr;69(4):337-43
Date
04/25/2006Pubmed ID
16630167DOI
10.1111/j.1399-0004.2006.00592.xScopus ID
2-s2.0-33645466307 (requires institutional sign-in at Scopus site) 20 CitationsAbstract
The ATP-dependent DNA helicase Q4 (RECQL4) belongs to a family of conserved RECQ helicases that are felt to be important in maintaining chromosomal integrity (Kitao et al., 1998, Genomics: 54 (3): 443-452). Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy. We present a patient with a molecularly confirmed diagnosis of RTS with two unique genetic alterations in RECQL4 (IVS16-2A>T and IVS2+27_51del25), who at the age of 7 months nearly succumbed to Pneumocystis carinii pneumonia. Evaluation of his immune system demonstrated a T- B+ NK- phenotype with agammaglobulinemia consistent with combined immunodeficiency (CID). Studies to evaluate for known genetic causes of CID were not revealing. The patient received an umbilical cord blood (UCB) transplant with complete immune reconstitution. This report represents the first description of a CID phenotype and UCB transplantation in a patient with RTS.
Author List
Broom MA, Wang LL, Otta SK, Knutsen AP, Siegfried E, Batanian JR, Kelly ME, Shah MMESH terms used to index this publication - Major topics in bold
AgammaglobulinemiaCord Blood Stem Cell Transplantation
Cytogenetic Analysis
Humans
Immunologic Deficiency Syndromes
Infant
Male
Phenotype
Pneumocystis Infections
Rothmund-Thomson Syndrome
