Skip to main content
Journal cover image

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.

Publication ,  Journal Article
Heimall, J; Keller, M; Saltzman, R; Bunin, N; McDonald-McGinn, D; Zakai, E; de Villartay, J-P; Moshous, D; Ariue, B; McCarthy, EA; Devlin, BH ...
Published in: J Clin Immunol
October 2012

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

October 2012

Volume

32

Issue

5

Start / End Page

1141 / 1144

Location

Netherlands

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Nuclear Proteins
  • Infant, Newborn
  • Infant
  • Immunology
  • Humans
  • Female
  • Endonucleases
  • DiGeorge Syndrome
  • DNA-Binding Proteins
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Heimall, J., Keller, M., Saltzman, R., Bunin, N., McDonald-McGinn, D., Zakai, E., … Markert, M. L. (2012). Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol, 32(5), 1141–1144. https://doi.org/10.1007/s10875-012-9741-9
Heimall, Jennifer, Michael Keller, Rushani Saltzman, Nancy Bunin, Donna McDonald-McGinn, Elaine Zakai, Jean-Pierre de Villartay, et al. “Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.J Clin Immunol 32, no. 5 (October 2012): 1141–44. https://doi.org/10.1007/s10875-012-9741-9.
Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zakai E, et al. Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol. 2012 Oct;32(5):1141–4.
Heimall, Jennifer, et al. “Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.J Clin Immunol, vol. 32, no. 5, Oct. 2012, pp. 1141–44. Pubmed, doi:10.1007/s10875-012-9741-9.
Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zakai E, de Villartay J-P, Moshous D, Ariue B, McCarthy EA, Devlin BH, Parikh S, Buckley RH, Markert ML. Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol. 2012 Oct;32(5):1141–1144.
Journal cover image

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

October 2012

Volume

32

Issue

5

Start / End Page

1141 / 1144

Location

Netherlands

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Nuclear Proteins
  • Infant, Newborn
  • Infant
  • Immunology
  • Humans
  • Female
  • Endonucleases
  • DiGeorge Syndrome
  • DNA-Binding Proteins