Document Type

DNP Project


School of Nursing

Date of Degree

Spring 2018


Doctor of Nursing Practice (DNP)

Primary Advisor

Qiuping (Pearl) Zhou, PhD, RN; Dennis D. Hickstein, MD; Nirali N. Shah, MD, MHSc


GATA2 deficiency, Dedicator-of-Cytokinesis-8 (DOCK8) deficiency, allogeneic hematopoietic stem cell transplant (HSCT)


Background/Purpose: GATA2 and Dedicator-of-Cytokinesis-8 (DOCK8) deficiencies are two recently described genetic immunodeficiency diseases for which allogeneic hematopoietic stem cell transplant (HSCT) represents the only definitive therapy. The patient characteristics and HSCT variables that relate to the outcomes in these two diseases following HSCT remain unclear. Therefore, we described these variables in these two patient populations and explored their relationships with HSCT outcomes.

Methods: Data were obtained from retrospective chart reviews of all patients with GATA2 deficiency and DOCK8 deficiency who underwent HSCT on clinical research protocols at the National Cancer Institute. The outcomes included overall and disease-free survival status, graftversus-host disease (GVHD), and HSCT complications.

Results: Of the 51 patients who underwent HSCT, 37 had GATA2 deficiency and 24 had DOCK8 deficiency. On the GATA2 protocols, 28 of 37 patients (75%) were alive at the time of the review and all had reversal of the disease phenotype. GATA2 deficiency patients had a mean of 2.2 (SD=1.2) and 0.8 (SD=1.1) life-threatening infections pre-HSCT and post-HSCT, respectively. Of the 24 DOCK8 patients on protocol 19 (79.2%) were alive at the time of review and all had correction of their underlying disease. The DOCK8 patients had a mean of 1.8 (SD=0.7), and 0.9 (SD=0.7) life-threatening infections pre-HSCT and post-HSCT, respectively.

Conclusions & Implications: This study fills a gap in the scientific literature by providing data on patient characteristics, HSCT factors, treatment access, and the clinical outcomes for two the recently described primary genetic immunodeficiency diseases. Our results indicate that patients, with GATA2 or DOCK8 deficiencies undergoing HSCT prior to the development of lifethreatening infections, end-organ damage, or myeloid transformation, have favorable clinical outcomes with correction of the underlying immunodeficiency. This study provides information for health care providers caring for these patients, on the effect of the social determinants and prognostic factors on successful HSCT.

Open Access




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