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NIH Research Festival

September 12 – 14, 2018

Allogeneic bone marrow transplantation for STAT3 deficiency

Thursday, September 13, 2018 – Poster Session III
12:00 – 1:30 p.m.

FAES Terrace

NCI

IMMUNO-10

Authors

  • D Dimitrova
  • AF Freeman
  • SM Holland
  • JA Kanakry

Abstract

Patients with STAT3 deficiency are infrequently offered allogeneic bone marrow transplantation (alloBMT), as many are managed with supportive care and antibiotic prophylaxis alone. The limited reports on alloBMT for this disease suggest varying degrees of phenotype reversal. We describe 3 STAT3-deficient patients who received alloBMT for particularly severe clinical trajectories. All patients received reduced-intensity conditioning, a T-cell-replete bone marrow graft (1 HLA-haploidentical, 2 HLA-matched related), and post-transplant cyclophosphamide-based graft-versus-host disease (GVHD) prophylaxis. There was no GVHD or graft failure. Patient 1, a 7-year-old girl with a history of recurrent life-threatening pulmonary infections and post-infectious pneumatocele formation, developed pulmonary aspergillosis day +28 post-BMT with concomitant eosinophilic pneumonia requiring systemic corticosteroids and tocilizumab. Her pneumatocele ruptured, prompting lobectomy day +96. At 11.5 months post-BMT, she developed pneumococcal sepsis and cryptogenic organizing pneumonia. Currently, she continues antibiotic prophylaxis and immunoglobulin replacement but is without further lung infections at 2.5 years post-BMT. Patient 2, a 15-year-old girl with severe atopic dermatitis and recurrent skin and sinus infections, had an atopic dermatitis flare post-BMT requiring aggressive topical care, systemic antibiotics for superinfection, and briefly systemic corticosteroids. Atopic dermatitis and sinusitis resolved by 1 and 2 years post-BMT respectively. Patient 3, a 12-year-old boy, had severe atopic dermatitis, frequent skin infections, recurrent pneumonia, and osteomyelitis. He has had few infectious complications and has improved atopic dermatitis post-BMT. IgE levels decreased in all three. While all patients derived some clinical benefit from alloBMT, longer follow up is needed to delineate the extent and timeline of phenotype reversal.

Scientific Focus Area: Immunology

This page was last updated on Friday, March 26, 2021

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2018 program

Download the 2018 Research Festival Schedule Overview (6 pages)

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