Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study

Demirtaş, Duygu; Çağdaş, Deniz; Özgür, Tuba Turul; Kuşkonmaz, Barış; Çetinkaya, Duygu Uçkan; Sanal, Özden; Tezcan, İlhan

doi:10.1080/08820139.2020.1869776

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…In this cohort, only 20% of the patients (n = 7) had AID deficiency 25 . Generally, X‐linked defects are less common in countries with high ratio of consanguineous marriages 26,27 . Based on these data, there may be several causes of relative higher rate of AID deficiency in our cohort.…”

Section: Discussionmentioning

confidence: 67%

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A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

et al. 2022

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Isotype class-switch recombination (CSR), somatic hypermutation (SHM), B cell signalling and DNA repair mechanisms defects are responsible for high IgM.The hyperimmunoglobulin M (HIGM) phenotype and CSR-related defects are now classified under primary antibody defects, combined immunodeficiencies or syndromic immunodeficiencies groups. The aim of the study is to evaluate the diverse phenotypic/genotypic/laboratory characteristics and outcome of patients with CSR defects and HIGM-related defects. We enrolled 50 patients. The most common gene defect was Activation-induced cytidine deaminase (AID) deficiency (n = 18), followed by CD40 Ligand (CD40L) (n = 14) and CD40 (n = 3) deficiency. Median ages at first symptom and diagnosis were significantly lower in CD40L deficiency (8.5 and 30 months, respectively) than AID deficiency (30 and 114 months, respectively) (p = .001 and p = .008, respectively). Frequent clinical symptoms were recurrent (66%) and severe (14.9%) infections, and/or autoimmune/non-infectious inflammatory features (48.4%). Eosinophilia and neutropenia were at a higher rate in CD40L deficiency patients (77.8%, p = .002 and 77.8%, p = .002, respectively) when compared to AID deficiency. Median serum IgM level was low in 28.6% of CD40L deficiency patients. It was significantly lower when compared to AID deficiency (p < 0.001). Six patients (CD40L deficiency n = 4, CD40 deficiency n = 2) underwent hematopoietic stem cell transplantation. Five were alive at the last visit. Four patients two patients with CD40L deficiency, one with CD40 deficiency and one with AID deficiency had novel mutations. In conclusion; patients with CSR defects and HIGM phenotype may present with a wide range of clinical manifestations and laboratory findings. Low IgM, neutropenia and eosinophilia were prominent in patients with CD40L deficiency. Characterization of genetic defect-specific clinical and laboratory features may ease the diagnosis, prevent the underdiagnoses of patients and ameliorate the outcome.

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Section: Discussionmentioning

confidence: 67%

“…25 Generally, X-linked defects are less common in countries with high ratio of consanguineous marriages. 26,27 Based on these data, there may be several causes of relative higher rate of AID deficiency in our cohort. Patients with CD40L deficiency may have been followed up with CID as they had low IgM before NGS use.…”

Section: Discussionmentioning

confidence: 70%

A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

et al. 2022

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“…For most forms of SCID, HSCT was the only curative therapy (Bayram et al, 2021). After HSCT, the immune reconstitution and growth were normal in the majority of SCID patients (Demirtas et al, 2021), whose survival was between 85 and 90% in more recent prospective cohorts (Dvorak et al, 2013;Heimall et al, 2017;Haddad and Hoenig, 2019).…”

Section: Introductionmentioning

confidence: 96%

Population pharmacokinetics and initial dose optimization of tacrolimus in children with severe combined immunodeficiency undergoing hematopoietic stem cell transplantation

et al. 2022

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The present study aimed to explore the population pharmacokinetics and initial dose optimization of tacrolimus in children with severe combined immunodeficiency (SCID) undergoing hematopoietic stem cell transplantation (HSCT). Children with SCID undergoing HSCT treated with tacrolimus were enrolled for analysis. Population pharmacokinetics of tacrolimus was built up by a nonlinear mixed-effects model (NONMEM), and initial dose optimization of tacrolimus was simulated with the Monte Carlo method in children weighing <20 kg at different doses. A total of 18 children with SCID undergoing HSCT were included for analysis, with 130 tacrolimus concentrations. Body weight was included as a covariable in the final model. Tacrolimus CL/F was 0.36–0.26 L/h/kg from body weights of 5–20 kg. Meanwhile, we simulated the tacrolimus concentrations using different body weights (5–20 kg) and different dose regimens (0.1–0.8 mg/kg/day). Finally, the initial dose regimen of 0.6 mg/kg/day tacrolimus was recommended for children with SCID undergoing HSCT whose body weights were 5–20 kg. It was the first time to establish tacrolimus population pharmacokinetics in children with SCID undergoing HSCT; in addition, the initial dose optimization of tacrolimus was recommended.

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Epstein–Barr virus reactivation correlates with worse outcomes for patients exposed to hepatitis B virus after haploidentical hematopoietic stem cell transplantation

Hu,

Zhao,

Wang

et al. 2023

Ann Hematol

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Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study

Cited by 4 publications

References 15 publications

A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

Population pharmacokinetics and initial dose optimization of tacrolimus in children with severe combined immunodeficiency undergoing hematopoietic stem cell transplantation

Epstein–Barr virus reactivation correlates with worse outcomes for patients exposed to hepatitis B virus after haploidentical hematopoietic stem cell transplantation

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