Abstract | BACKGROUND: CASE PRESENTATION: The cases of two brothers suffering from severe recurrent infections and growth retardation are described. The laboratory findings showed pancytopenia with significant lymphopenia. The two boys were diagnosed with DNA ligase IV deficiency, associated with severe combined immunodeficiency (SCID). Both patients received HSCT from two different matched unrelated donors (MUD) at the age of 33 and 18 months. The older brother succumbed post-transplant due to fatal side-effects 143 days after allogeneic HSCT. The younger brother - conditioned with a different regimen - received a T cell depleted graft 4 months later. No severe side-effects occurred, neither post-transplant nor in the following years. Ten years after HSCT the patient is well off, living a normal life and attending a regular high school. His immune system is fully reconstituted, resulting in a maximum of T cell receptor (TCR) diversity, which is a prerequisite for immune competence. However, he still suffers from microcephaly, dwarfism and dystrophy. CONCLUSIONS: This case report gives an example of a successful HSCT as a treatment option in a genetic disorder such as ligase IV deficiency, using a rather mild conditioning regimen. Further studies are required to determine the viability and efficacy of this treatment option.
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Authors | Sarah Schober, Karin Schilbach, Michaela Doering, Karin M Cabanillas Stanchi, Ursula Holzer, Patrick Kasteleiner, Jens Schittenhelm, Juergen F Schaefer, Ingo Mueller, Peter Lang, Rupert Handgretinger |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 19
Issue 1
Pg. 346
(10 11 2019)
ISSN: 1471-2431 [Electronic] England |
PMID | 31604460
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- LIG4 protein, human
- DNA Ligase ATP
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Topics |
- Child, Preschool
- DNA Ligase ATP
(deficiency)
- Fatal Outcome
- Hematopoietic Stem Cell Transplantation
(adverse effects, methods)
- Humans
- Infant
- Male
- Severe Combined Immunodeficiency
(complications, immunology)
- Siblings
- Transplantation Conditioning
(methods)
- Transplantation, Homologous
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