Immune Reconstitution Inflammatory Syndrome After Hematopoietic Stem Cell Transplantation in a FOXN1 -deficient Patient.
J Pediatr Hematol Oncol
; 45(5): 275-277, 2023 07 01.
Article
in En
| MEDLINE
| ID: mdl-37146104
ABSTRACT
The FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving if performed earlier. Thymic transplantation is the curative treatment for FOXN1 deficiency because the main pathology is thymic stromal changes. In this report, we describe the clinical features of a Turkish patient with a homozygous FOXN1 mutation treated with HSCT from his human leukocyte antigen-matched sibling. On follow-up, he showed Bacille Calmette Guerin adenitis and was evaluated as having immune reconstitution inflammatory syndrome. By presenting our patient, we aimed to draw attention to the development of HSCT and subsequent immune reconstitution inflammatory syndrome as a treatment option in patients with FOXN1 deficiency.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Severe Combined Immunodeficiency
/
Hematopoietic Stem Cell Transplantation
/
Immune Reconstitution Inflammatory Syndrome
Type of study:
Etiology_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Pediatr Hematol Oncol
Journal subject:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Year:
2023
Document type:
Article