title: Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease.
abstract: Partial or total CD3 chain expression defects including CD3 gamma, epsilon, delta, and zeta chain are among the autosomally inherited SCID presenting with T-B+NK+ phenotype with lymphopenia. The clinical findings are generally severe in all except for CD3 gamma deficiency. Here we present a 10-month-old CD3 gamma deficient boy with IBD. The patient had suffered from intractable diarrhea, recurrent pulmonary infections and oral moniliasis since two months of age. Following the first allogeneic HSCT from his HLA-identical (6/6) sister after a reduced intensity regimen, a second transplantation was performed five months later. On day +19 after second transplantation, the CD3 TCR alpha/beta chain expression increased to 66% with development of full donor chimerism (98.6%). A significant improvement in diarrhea, perianal lesions, and rectal fistula was observed suggesting an improvement in inflammatory bowel disease. The patient died at home on day +50 with a sudden respiratory failure secondary to an undetermined infection. The case was interesting being the first reported case with SCID and inflammatory bowel disease who responded very well to HSCT by full recovery of intractable diarrhea, failure to thrive, laboratory findings, and improvement of fistula formation.
authors.affiliation: Division of Immunology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Tuba Turul
authors.initials: TT
authors.lastname: Ozgür
authors.forename: Gülten Türkkani
authors.initials: GT
authors.lastname: Asal
authors.forename: D
authors.initials: D
authors.lastname: Cetinkaya
authors.forename: D
authors.initials: D
authors.lastname: Orhan
authors.forename: S S
authors.initials: SS
authors.lastname: Kiliç
authors.forename: Y
authors.initials: Y
authors.lastname: Usta
authors.forename: H
authors.initials: H
authors.lastname: Ozen
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
mesh_terms: D000890:Anti-Infective Agents / Q000494:pharmacology; D017252:CD3 Complex / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D002177:Candidiasis / Q000150:complications; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D015212:Inflammatory Bowel Diseases / Q000378:metabolism*; D008168:Lung / Q000382:microbiology; D008171:Lung Diseases / Q000150:complications; D008231:Lymphopenia / Q000378:metabolism; D008297:Male; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000150:complications; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000628:therapy
chemical_list: D000890:Anti-Infective Agents; D017252:CD3 Complex; C452842:CD3 antigen, gamma chain