Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Yaz, Ismail; Özbek, Begüm; Ng, Yuk Yin; Çetinkaya, Pınar Gür; Halaçlı, Sevil Oskay; Tan, Çağman; Kasikci, Merve; Koşukçu, Can; Tezcan, İlhan; Çağdaş, Deniz

doi:10.1007/s10875-020-00761-2

Cited by 3 publications

(4 citation statements)

References 36 publications

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“…Increased levels of CD21 low B cells and Tr observed in our CVID patients were also reported previously in our CVID pooled patients 17 . Such well‐established alterations in the B‐cell compartment were defined before among CVID patients with mixed genetic defects, 15‐18,34‐36 and our results for non‐monogenic CVID patients seem to be comparable. Elevated levels of CD21 low B‐cell subset, frequently reported by other scientists in mixed genetic CVID patients with autoimmunity, autoimmune cytopenia and immune dysregulation, 36‐41 in our CVID patients without any genetic defect was accompanied by decreased Treg.…”

Section: Discussionsupporting

confidence: 91%

Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without monogenic defects

et al. 2022

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Common variable immunodeficiency (CVID) is accompanied by various lymphocyte abnormalities believed to be mostly responsible for disease features in patients with no diagnosed monogenic defects. Here, we evaluated the association of B and T lymphocyte abnormalities with the incidence of CVID. Twenty‐six genetically unsolved CVID patients were examined for B and T lymphocyte subsets by flow cytometry and CD4+ T‐cell proliferation by carboxyfluorescein succinimidyl ester (CFSE) test. We detected a reduction in total, naive, memory B cells and plasmablasts, and also total, naive, central memory and regulatory CD4+ T cells, besides naive CD8+ T cells. There was an increase in CD21low and transitional B cells, effector memory (EM) and terminally differentiated effector memory (TEMRA) CD4+ T‐cell subsets as well as total, EM, TEMRA, activated and cytotoxic CD8+ T cells among non‐monogenic CVID patients. CD4+ T‐cell proliferation response was reduced regarding both division index and percent divided. In conclusion, regarding the similarity of lymphocyte abnormalities between patients without genetic defects and those with monogenic defects, genetic mutations are not responsible for these specific lymphocyte changes. However, the novel correlations observed between lymphocyte alterations among genetically unsolved CVID patients may serve as a guide to predict the potential of future CVID development for hypogammaglobulinemia children.

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Section: Discussionsupporting

confidence: 91%

Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without monogenic defects

et al. 2022

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“…Another single-centre study evaluating KREC copy numbers in CVID patients was recently published. 19 The mean KREC values were found to be similar among the patients; however, the range of their control group was higher than that of ours. This discrepancy was likely due to the age range of the control group in the above-mentioned study.…”

Section: Discussioncontrasting

confidence: 55%

“…Although the authors claimed that detecting lymphopenia might be useful in countries where TREC analysis is not available, the method is associated with a high rate of false‐positive results and, consequently, can be misleading. Another single‐centre study evaluating KREC copy numbers in CVID patients was recently published 19 . The mean KREC values were found to be similar among the patients; however, the range of their control group was higher than that of ours.…”

Section: Discussionmentioning

confidence: 44%

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Şentürk

Eltan³

et al. 2022

Scand J Immunol

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T cell receptor excision circles (TRECs) and kappa‐deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real‐time PCR in the peripheral blood of patients with primary immunodeficiencies (PIDs, n = 145) and that of healthy controls (HCs, n = 86) and assessed the correlation between RTEs and TREC copy numbers. We found that TREC copy numbers were significantly lower in children and adults with PIDs (P < .0001 and P < .002, respectively) as compared with their respective age‐matched HCs. A moderate correlation was observed between TREC copies and RTE numbers among children with PID (r = .5114, P < .01), whereas no significant correlation was detected between RTE values and TREC content in the HCs (r = .0205, P = .9208). Additionally, we determined TREC and KREC copy numbers in DNA isolated from the Guthrie cards of 200 newborns and showed that this method is applicable to DNA isolated from both peripheral blood samples and dried blood spots, with the two sample types showing comparable TREC and KREC values. We further showed that RTE values are not always reliable markers of T cell output. Although additional confirmatory studies with larger cohorts are needed, our results provide thresholds for TREC/KREC copy numbers for different age groups.

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“…The clinical course of the patients diagnosed with sIgMD showed that these patients also get different diagnoses in the follow-up, including PID diseases, autoimmune and inflammatory, and chromosomal diseases. 22 We do not know whether the other patients will get any other diagnosis in the future. We observed that about 25% of the patients with sIgMD had PID, and 84% had CID in our series.…”

Section: Ta B L E 3 Clinical Features Of Patients With Well-defined Primary Immunodeficiency Diseasesmentioning

confidence: 99%

Selective IgM deficiency: Follow‐up and outcome

Caka

Çimen

Kahyaoğlu

et al. 2021

Pediatric Allergy Immunology

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Background: Selective IgM deficiency (sIgMD) is classified under primary immunodeficiencies (PID). This study aimed to define the clinical and immunologic features of sIgMD. Patient and Methods:We assessed a retrospective medical record of patients who fulfilled the diagnostic criteria for sIgMD in a pediatric immunology department.Results: There were 55 patients with sIgMD. Out of 55 patients, 13 (23.6%) patients, diagnosed with a well-defined PID disease, and nine, evaluated as transient hypogammaglobulinemia, were excluded in the follow-up. The ratio of the sIgMD was %0.12 in the outpatient clinic of pediatric immunology (33/27,000). Out of 33 patients, eight (24,2%) were asymptomatic during the follow-up period. Fifteen (45.4%) patients presented with upper/lower respiratory and skin infections. Six patients (18%) had chromosomal anomaly, or syndrome (trisomy 21, 22q11.2 deletion 1p deletion, CHARGE syndrome, and Cohen syndrome). Six (18%) had autoimmune/inflammatory diseases, such as Behcet's disease, immune thrombocytopenic purpura, Crohn's disease, Guillain-Barre syndrome, and diabetes mellitus. Five (15%) had allergic disorders. Three patients (9%) developed malignancy. The PID diagnoses were combined immunodeficiency, common variable immunodeficiency, chronic granulomatous disease, adenosine deaminase deficiency, and congenital neutropenia. Conclusion:Genetic disorders, autoimmune/inflammatory, and allergic diseases may accompany sIgMD. Approximately 25% of the patients were asymptomatic in our series. Patients had increased malignancy risk. We diagnosed about 25% of the patients having low IgM with a specific PID in the follow-up period. Thus, patients with sIgMD should be followed up regularly in immunology clinics.

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Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Cited by 3 publications

References 36 publications

Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without monogenic defects

Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without monogenic defects

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Selective IgM deficiency: Follow‐up and outcome

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