2 research outputs found
Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies
Introduction: HSCT is the curative therapeutic option in PIDs. Due to the increase in
survival rates, reduced-toxicity
conditioning regimens with treosulfan have become
another alternative. The purpose of this retrospective study was to analyze the outcome
of treosulfan-based
conditioning before HSCT for patients with PID.
Method: A total of 15 patients that received a treosulfan-based
conditioning regimen
for HSCT were recruited. Type of diagnosis, donor and stem cell source, pretransplant
organ damage, infections, engraftment, chimerism, and transplant-related
toxicities
were analyzed.
Results: At a median follow-up
time of 32 months, the overall survival was 86.7%.
Following HSCT, 14 of 15 patients had engraftment, with 86.7% of the cohort having
full-donor
chimerism. The most common toxicity was seen on the skin (53.3%). Acute
GVHD and chronic GVHD were documented in 53% and 20% of the study population,
respectively. Although the cohort consisted of patients with pretransplant liver
damage, SOS manifestations were documented in 20%.
Conclusion: Treosulfan-based
conditioning regimens before HSCT are associated
with lower toxicity compared to myeloablative regimens, are safe, and have high engraftment
rates with full-donor
chimerism in patients having PID, regardless of the
specified genetic diagnosis and donor type
Does the hyper IgM phenotype affect prognosis in ataxia telangiectasia?
Objective: To evaluate the characteristics of the patients who were followed-up with the diagnosis of ataxia telangiectasia (AT) and to
assess the relationship between the hyper IgM (HIGM) phenotype and their prognosis.
Materials and Methods: From 2007 to 2019, the study included 68 patients aged 3-35 years who were followed-up with the diagnosis of
AT. We retrospectively evaluated the clinical and immunological characteristics and follow-up results.
Results: There were 36 girls and 32 boys with a median follow-up of 10 years (1-12 years). The most common complaints upon
admission were unsteady walk in 87%, infection in 6%, presence of a family history in 6%, and intracranial mass in 1%. The marriage
was consanguineous in 85% of the parents. Ataxia was seen in 100% of the patients, telangiectasia in 97%, and immune deficiency in
88%. Bronchiectasis was observed in 23.5% of the patients, chronic diarrhea in 19%, lymphoproliferation in 15%, malignancy in 10%,
autoimmunity in 10%, liver failure in 6%, and granulomatous skin lesions in 6%. Thirteen patients (19%) died during follow-up. The
HIGM phenotype was identified in 31% of the patients. Recurrent upper and lower respiratory tract infections (p=0.004 and p<0.0001,
respectively), liver failure (p=0.005), and autoimmune diseases (p=0.023) were significantly higher in the HIGM (+) group than the
HIGM (-) group. Life expectancy was shorter in the HIGM (+) group with 14 ± 0.73 years (CI 95% 12.55-15.44) compared to the HIGM
(-) group with 18 ± 1.64 years (CI 95% 14.77-21.22) (p=0.054).
Conclusion: During the early childhood period and before the characteristic findings of AT develop, the patients might present at a
hospital with infections, autoimmunity, lymphoproliferation, or malignancy. Physical examination, high alpha-fetoprotein (AFP) levels
and immunological testing provide important data for the correct diagnosis. The HIGM phenotype aggravates the clinical course of the
disease resulting in fatalities at an earlier age and at a higher rate