Clinical, immunophenotypic, and molecular characteristics of five normolymphocytic patients with elevated TCR γδ frequencies
| FuGe cohort number | 44 (P1) | 86 | 528 | 558 | 581 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Year of birth | 1986 | 1985 | 1989 | 1998 | 1961 | |||||
| Clinical phenotype, associated atopy | Susceptibility to airway infections; oral erosions; elevated IgE | Childhood-onset allergic asthma; recurrent viral-like airway infections; house dust mite desensitization; normal IgE | Recurrent viral-like airway infections (20× per year); tonsillectomy; low IgE | Recurrent tonsillitis and sinusitis since childhood; splenectomy due to spherocytosis; normal IgE | Chronic rhinosinusitis without polyps; asthma; ENT surgery; low IgE | |||||
| Evaluation date | 2017 | 2025 | 2019 | 2024 | 2023 | 2024 | 2024 | 2024 | 2024 | 2025 |
| Neutrophils absolute (G/L); Ref: 1.3–6.7 | 6.02 | 4.61 | 5.94 | 3.82 | 6.29 | 5.43 | 3.51 | N.D | 2.87 | 5.5 |
| Lymphocytes absolute (G/L); Ref: 0.9–3.3 | 2.39 | 1.72 | 3.74 | 2.51 | 2.82 | 2.2 | 1.91 | N.D | 2.03 | 1.99 |
| Lymphocytes (% of leukocytes); Ref: 19–48 | 26.23 | 24.20 | 35.10 | 35.20 | 28.40 | 26.50 | 30.80 | N.D | 25.60 | 24.70 |
| Absolute T cell count (cells/μl); Ref: 742–2,750 | 1,857 | 1,317 | 3,132 | 2,274 | 2,629 | 1,947 | 1,730 | 1,792 | 1,728 | 1,830 |
| Absolute γδ T cell count (cells/μl) | 612 | 233 | 1,221 | 932 | 565 | 368 | 847 | 914 | 373 | 389 |
| γδ T cells (% of total T cells); Ref: 0.5–16 | 33 | 17.7 | 39 | 41 | 21.5 | 18.9 | 49 | 51 | 21.6 | 21.3 |
| T cell clonality (method) | 6.7% (NGS) | 13% (NGS) | Biclonal (multiplex PCR) | N.D | 7% (NGS) | N.D | N.D | 12.7% (NGS) | 14% (NGS) | N.D |
| γδ T-LGL (% of T cells) as assessed by diagnostic hemato-immunologic flow cytometry | 25% | 12% | 42% | N.D | N.D | 17% | N.D | 40% | 25% | N.D |
| γδ T cell flow phenotype | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57− | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57− | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16−, CD56−, CD57+ | N.D | N.D | CD5dim, CD2+, CD7+, CD16+, CD56+, CD57+ | N.D | CD5dim, CD2+, CD7+, CD16+, CD56+, CD57+ | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57+ | N.D |
| STAT5B mutation (method) | Yes (NGS-sorted γδ T cells) | N.D | No (NGS-sorted γδ T cells) | N.D | N.D | No (Sanger sequencing; PBMCs) | N.D | No (Sanger sequencing; PBMCs) | No (Sanger sequencing; PBMCs) | N.D |
| STAT3 mutation (method) | No (NGS-sorted γδ T cells) | N.D | No (NGS-sorted γδ T cells) | N.D | N.D | N.D | N.D | N.D | N.D | N.D |
| Treatment | Baricitinib | Watch and wait | Watch and wait | Watch and wait | Watch and wait | |||||
| FuGe cohort number | 44 (P1) | 86 | 528 | 558 | 581 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Year of birth | 1986 | 1985 | 1989 | 1998 | 1961 | |||||
| Clinical phenotype, associated atopy | Susceptibility to airway infections; oral erosions; elevated IgE | Childhood-onset allergic asthma; recurrent viral-like airway infections; house dust mite desensitization; normal IgE | Recurrent viral-like airway infections (20× per year); tonsillectomy; low IgE | Recurrent tonsillitis and sinusitis since childhood; splenectomy due to spherocytosis; normal IgE | Chronic rhinosinusitis without polyps; asthma; ENT surgery; low IgE | |||||
| Evaluation date | 2017 | 2025 | 2019 | 2024 | 2023 | 2024 | 2024 | 2024 | 2024 | 2025 |
| Neutrophils absolute (G/L); Ref: 1.3–6.7 | 6.02 | 4.61 | 5.94 | 3.82 | 6.29 | 5.43 | 3.51 | N.D | 2.87 | 5.5 |
| Lymphocytes absolute (G/L); Ref: 0.9–3.3 | 2.39 | 1.72 | 2.51 | 2.82 | 2.2 | 1.91 | N.D | 2.03 | 1.99 | |
| Lymphocytes (% of leukocytes); Ref: 19–48 | 26.23 | 24.20 | 35.10 | 35.20 | 28.40 | 26.50 | 30.80 | N.D | 25.60 | 24.70 |
| Absolute T cell count (cells/μl); Ref: 742–2,750 | 1,857 | 1,317 | 2,274 | 2,629 | 1,947 | 1,730 | 1,792 | 1,728 | 1,830 | |
| Absolute γδ T cell count (cells/μl) | 612 | 233 | 1,221 | 932 | 565 | 368 | 847 | 914 | 373 | 389 |
| γδ T cells (% of total T cells); Ref: 0.5–16 | ||||||||||
| T cell clonality (method) | 6.7% (NGS) | 13% (NGS) | Biclonal (multiplex PCR) | N.D | 7% (NGS) | N.D | N.D | 12.7% (NGS) | 14% (NGS) | N.D |
| γδ T-LGL (% of T cells) as assessed by diagnostic hemato-immunologic flow cytometry | 25% | 12% | 42% | N.D | N.D | 17% | N.D | 40% | 25% | N.D |
| γδ T cell flow phenotype | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57− | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57− | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16−, CD56−, CD57+ | N.D | N.D | CD5dim, CD2+, CD7+, CD16+, CD56+, CD57+ | N.D | CD5dim, CD2+, CD7+, CD16+, CD56+, CD57+ | CD5dim, CD2+, CD7+, CD52+, CD30−, CD16+, CD56+, CD57+ | N.D |
| STAT5B mutation (method) | Yes (NGS-sorted γδ T cells) | N.D | No (NGS-sorted γδ T cells) | N.D | N.D | No (Sanger sequencing; PBMCs) | N.D | No (Sanger sequencing; PBMCs) | No (Sanger sequencing; PBMCs) | N.D |
| STAT3 mutation (method) | No (NGS-sorted γδ T cells) | N.D | No (NGS-sorted γδ T cells) | N.D | N.D | N.D | N.D | N.D | N.D | N.D |
| Treatment | Baricitinib | Watch and wait | Watch and wait | Watch and wait | Watch and wait | |||||
N.D, not done; Ref, reference range. Values above reference range are indicated in bold. Sanger sequencing of bulk PBMC may fail to detect low-variant-allele-frequency mutations in both STAT3 and STAT5B.
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