Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency
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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.
Keywords22q11 deletion SCID immunodeficiency DiGeorge anomaly
The clinical coordination by Stephanie Gupton, PNP, the technical work of Chia-san Hsieh and Jie Li, and patient care by the faculty and fellows of the Duke Pediatric Division of Allergy and Immunology and The Children’s Hospital of Philadelphia 22q and You Center and the Divisions of Allergy and Immunology and Oncology are appreciated.
JH evaluated and coordinated care for patient 2, conceived of the idea for the paper and wrote the paper. MK provided care for patient 2 and wrote the paper. RS provided care for patient 2 and wrote the paper. NB performed the HSCT for patient 2. DMM and EZ provided Clinical Genetics counseling and care for patient 2. JPdV performed molecular diagnostics for patient 1. DM made arrangements for the molecular diagnosis for patient 1. BA provided care for patient 1. EAM coordinated care for patient 1. BHD first proposed the presence of SCID in patient 1 and coordinated the thymus transplant. RHB and SP performed the HSCTs for patient 1. MLM performed thymus transplantation and provided patient care for patient 1 and wrote the paper.
Disclosure of Conflicts of interest
Jennifer Heimall, Michael Keller, Rushani Saltzman, Nancy Bunin, Jean-Pierre de Villartay, Barbara Ariue, Elizabeth A. McCarthy, Blythe H. Devlin, Suhag Parikh, Rebecca H. Buckley have nothing to disclose.
Donna McDonald-McGinn has NIH grant support to study genetic modifiers and brain behavior in patients with 22q11.2.
Elaine Zakai has NIH grant support to study genetic modifiers and brain behavior in patients with 22q11.2.
Despina Moshous has received the The Robert A Good/Jeffrey Modell Fellowship in Transplantation and Immunodeficiency.
M. Louise Markert has NIH grant support studying T cells in complete DiGeorge anomaly after thymus transplantation. She has a patent pending for combined thymus and parathyroid transplantation for complete DiGeorge anomaly.