Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.
WHIM syndrome
congenital neutropenia
hematopoietic stem cell transplantation
human papillomavirus
primary immunodeficiency
warts
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
08
04
2021
accepted:
11
10
2021
pubmed:
27
10
2021
medline:
5
3
2022
entrez:
26
10
2021
Statut:
ppublish
Résumé
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a rare disease, caused by CXCR4 gene mutations, which incorporates features of combined immunodeficiency, congenital neutropenia, and a predisposition to human papillomavirus infection. Established conventional treatment for WHIM syndrome does not fully prevent infectious complications in these patients. Only single case reports of hematopoietic stem cell transplantation (HSCT) efficacy in WHIM have been published. To summarize current information on HSCT efficacy in disease treatment, seven pediatric patients with WHIM syndrome who underwent allogeneic HSCT were identified in five centers worldwide. All patients presented early after birth with neutropenia. Two of seven patients exhibited severe disease complications: poorly controlled autoimmunity (arthritis and anemia) in one and progressive myelofibrosis with recurrent infections in the other. The remaining patients received HSCT to correct milder disease symptoms (recurrent respiratory infections, progressing thrombocytopenia) and/or to preclude severe disease course in older age. All seven patients engrafted but one developed graft rejection and died of infectious complications after third HSCT. Three other patients experienced severe viral infections after HSCT (including post-transplant lymphoproliferative disease in one) which completely resolved with therapy. At last follow-up (median 6.7 years), all six surviving patients were alive with full donor chimerism. One patient 1.4 years after HSCT had moderate thrombocytopenia and delayed immune recovery; the others had adequate immune recovery and were free of prior disease symptoms. HSCT in WHIM syndrome corrects neutropenia and immunodeficiency, and leads to resolution of autoimmunity and recurrent infections, including warts.
Identifiants
pubmed: 34697698
doi: 10.1007/s10875-021-01155-8
pii: 10.1007/s10875-021-01155-8
pmc: PMC8821066
doi:
Substances chimiques
Receptors, CXCR4
0
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
171-182Informations de copyright
© 2021. The Author(s).
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