Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome
Identifieur interne : 000726 ( Ncbi/Curation ); précédent : 000725; suivant : 000727Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome
Auteurs : Katharina L. Gössling [Allemagne] ; Cyrill Schipp [Allemagne] ; Ute Fischer [Allemagne] ; Florian Babor [Allemagne] ; Gerhard Koch [Allemagne] ; Friedhelm R. Schuster [Allemagne] ; Jutta Dietzel-Dahmen [Allemagne] ; Dagmar Wieczorek [Allemagne] ; Arndt Borkhardt [Allemagne] ; Roland Meisel [Allemagne] ; Michaela Kuhlen [Allemagne]Source :
- Frontiers in Immunology [ 1664-3224 ] ; 2017.
Abstract
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist of prophylactic and supportive treatment of the recurrent infections. Here, we report the case of a 1-year-old boy of Moroccan consanguineous parents, who was diagnosed at 4 months of age with ICF syndrome with a homozygous missense mutation in the
Url:
DOI: 10.3389/fimmu.2017.00773
PubMed: 28713390
PubMed Central: 5491950
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PMC:5491950Le document en format XML
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<series><title level="j">Frontiers in Immunology</title>
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<front><div type="abstract" xml:lang="en"><p>Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist of prophylactic and supportive treatment of the recurrent infections. Here, we report the case of a 1-year-old boy of Moroccan consanguineous parents, who was diagnosed at 4 months of age with ICF syndrome with a homozygous missense mutation in the <italic>DNMT3B</italic>
gene. He was initially admitted to the hospital with recurrent pulmonary infections from the opportunistic pathogen <italic>Pneumocystis jirovecii (PJ)</italic>
. Further immunological workup revealed agammaglobulinemia in the presence of B cells. After successful recovery from the PJ pneumonia, he underwent hematopoietic stem cell transplantation (HSCT) from the HLA-matched healthy sister using a chemotherapeutic conditioning regimen consisting of treosulfan, fludarabine, and thiotepa. Other than acute chemotherapy-associated side effects, no serious adverse events occurred. Six months after HSCT immune-reconstitution, he had a stable chimerism with 2.9% autologous portion in the peripheral blood and a normal differential blood cell count, including all immunoglobulin subtypes. This is one of the first cases of successful HSCT in ICF syndrome. Early diagnosis and subsequent HSCT can prevent severe opportunistic infections and cure the immunodeficiency. Centromeric instability and facial anomaly remain unaffected. Although the long-term patient outcome and the neurological development remain to be seen, this curative therapy for immunodeficiency improves life expectancy and quality of life. This case is meant to raise physicians awareness for ICF syndrome and highlight the consideration for HSCT in ICF syndrome early on.</p>
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