title: Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome.
abstract: We present an infant with cDGS overlapping with CHARGE syndrome, who suffered from T-cell deficiency treated with screened healthy DLI from an unrelated donor (8/10 match). The first dose of DLI (1.1 x 10(6) CD3+/kg) was administered at the age of six months, the second one (0.9 x 10(6) CD3+/kg) 36 days later. No conditioning was employed, GvHD prophylaxis consisting of CsA was used only during the second infusion. Since day+10 after the first DLI, split chimerism showing T-cell engraftment has been documented. Proliferative response to PHA was detected on day+145. The treatment was complicated by severe acute GvHD (grade II-III) after the first DLI and prolonged chronic liver cholestatic GvHD developing after the second DLI. Vigorous EBV proliferation four wk after the second DLI was accompanied by peripheral expansion of CD8+ donor cells. The patient, 26-months old, is clinically well and has slowly started to gain his developmental milestones. We believe that infusions of small doses of DLI from an unrelated donor represent a potentially helpful therapeutic option in patients with cDGS/CHARGE phenotype.
authors.affiliation: Deptartment of Immunology, University Hospital Motol, Prague, Czech Republic. ales.janda@lfmotol.cuni.cz
authors.forename: Ales
authors.initials: A
authors.lastname: Janda
authors.forename: Petr
authors.initials: P
authors.lastname: Sedlacek
authors.forename: Ester
authors.initials: E
authors.lastname: Mejstrikova
authors.forename: Katerina
authors.initials: K
authors.lastname: Zdrahalova
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hrusak
authors.forename: Tomas
authors.initials: T
authors.lastname: Kalina
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Sieglova
authors.forename: Hana
authors.initials: H
authors.lastname: Zizkova
authors.forename: Renata
authors.initials: R
authors.lastname: Formankova
authors.forename: Petra
authors.initials: P
authors.lastname: Keslova
authors.forename: Petr
authors.initials: P
authors.lastname: Hubacek
authors.forename: Anna
authors.initials: A
authors.lastname: Sediva
authors.forename: Jirina
authors.initials: J
authors.lastname: Bartunkova
authors.forename: Karel
authors.initials: K
authors.lastname: Dlask
authors.forename: Jan
authors.initials: J
authors.lastname: Stary
mesh_terms: D001006:Anus, Imperforate / Q000628:therapy; D003103:Coloboma / Q000628:therapy*; D004062:DiGeorge Syndrome / Q000097:blood / Q000628:therapy*; D004423:Ear / Q000002:abnormalities; D004427:Ear Diseases / Q000151:congenital / Q000628:therapy; D005500:Follow-Up Studies; D005837:Genitalia, Male / Q000002:abnormalities; D006086:Graft vs Host Disease / Q000209:etiology / Q000517:prevention & control; D006130:Growth Disorders / Q000628:therapy; D006330:Heart Defects, Congenital / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000628:therapy; D017710:Lymphocyte Transfusion / Q000009:adverse effects / Q000379:methods*; D008297:Male; D013601:T-Lymphocytes