title: Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.
abstract: Two infants are described who presented with 22q11.2 deletion and a T(-)B(-)NK(+) immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months after transplantation had circulating thymus donor T cells; the patient did not develop recipient naïve T cells. Genetic analyses revealed that both patients had Artemis deficiency, a rare form of severe combined immunodeficiency (SCID). Both infants have subsequently undergone bone marrow transplantation. These cases illustrate the importance and paradox of differentiating SCID from complete DiGeorge anomaly because hematopoietic stem cell transplantation (HSCT) is the preferred treatment for SCID but is ineffective for complete DiGeorge anomaly. However, if the thymus is completely absent, donor stem cells from a HSCT would not be able to be educated.
authors.affiliation: Division of Allergy and Immunology, The Children's Hospital Of Philadelphia, Philadelphia, PA 19104, USA. heimallj@email.chop.edu
authors.forename: Jennifer
authors.initials: J
authors.lastname: Heimall
authors.forename: Michael
authors.initials: M
authors.lastname: Keller
authors.forename: Rushani
authors.initials: R
authors.lastname: Saltzman
authors.forename: Nancy
authors.initials: N
authors.lastname: Bunin
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Elaine
authors.initials: E
authors.lastname: Zakai
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: de Villartay
authors.forename: Despina
authors.initials: D
authors.lastname: Moshous
authors.forename: Barbara
authors.initials: B
authors.lastname: Ariue
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: McCarthy
authors.forename: Blythe H
authors.initials: BH
authors.lastname: Devlin
authors.forename: Suhag
authors.initials: S
authors.lastname: Parikh
authors.forename: Rebecca H
authors.initials: RH
authors.lastname: Buckley
authors.forename: M Louise
authors.initials: ML
authors.lastname: Markert
mesh_terms: D004268:DNA-Binding Proteins; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D004720:Endonucleases; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009687:Nuclear Proteins / Q000172:deficiency*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C426344:DCLRE1C protein, human; D004720:Endonucleases