The protein geranylgeranyltransferase Pggt1b is up-regulated in single-positive thymocytes, and loss of Pggt1b leads to marked defects in thymocyte egress and T cell lymphopenia in peripheral lymphoid organs in vivo.
Five kindreds with similar immunophenotypes that included selective T-cell lymphopenia had overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 and, in most cases, the immunoglobulin kappa light chain locus.
We identified a missense mutation (c. 3178C>T; p.R1060C) in POLD1 in 3 related subjects who presented with recurrent, especially herpetic, infections and T-cell lymphopenia with impaired T-cell but not B-cell proliferation.
The presence of albuminuria, lymphopenia and low complement C3 levels were independent prognostic predictors of short-term mortality in SLE patients with PI.
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia.
The multivariate analysis showed that age, resection margins, human epidermal growth factor receptor, and lymphopenia were significant predictors of IBTR.
The 102 patients with ALC1 ≤1,479 cells/μl (defined as lymphopenia) had significantly higher 10-year IBTR rate than the 102 patients with ALC1 >1,479 cells/μl (16.2% vs. 1%, p=0.0034).
In dually PARP-1 and PARP-2-deficient mice, B-cell lymphopenia was associated with increased DNA damage and accentuated death in actively proliferating B-cells.
This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans.
There are promising data suggesting that it may also have a direct neuroprotective property independent of peripheral lymphocytopenia.<b>Areas covered</b>: We reviewed the pharmacology and the clinical and radiological effects of siponimod.<b>Expert opinion</b>: The selective effect of siponimod on the S1P1 and S1P5 receptors offers a favorable side-effect profile and transient bradycardia can be avoided by dose titration.
Inhibition of miR-127-3p function in Lineage-negative cells, achieved through a lentiviral-sponge vector, led to severe stem cell depletion, as assessed with serial transplantation assays. miR-127-3p-sponged stem cells displayed accelerated differentiation, which was uncoupled from proliferation, accounting for the observed stem cell reduction. miR-127-3p overexpression in Lineage-negative cells did not alter stem cell pool size, but gave rise to lymphopenia, likely due to lack of miR-127-3p physiological downregulation beyond the stem cell stage.
Here we report for the first time an absolute CD4 lymphocytopenia (<0.01 CD4<sup>+</sup> T-cells/μl) due to an autosomal recessive CD4 gene mutation that completely abrogates CD4 protein expression on the surface membrane of T-cells, monocytes, and dendritic cells.
It undergoes phosphorylation to the active SYL-927-P <i>in vivo</i>, which activates S1P<sub>1</sub> on lymphocytes, causing lymphopenia by retention of lymphocytes in the lymph nodes.
In this study, we aimed to determine retinoic acid-inducible gene I (RIG-I) expression in peripheral T lymphocytes and explore the correlation between RIG-I and T cell lymphopenia in DM.
"Leukopenia or lymphopenia'' was present in 59% (19/32) of patients where SLICC-12 criteria allowed for earlier classification than ACR-97, compared with 15.4% (2/13) of patients where ACR-97 allowed earlier classification than SLICC-12 ( p = 0.02).
Previous studies demonstrated that the loss of NKAP, a transcriptional regulator of T cell maturation, caused peripheral T cell lymphopenia and enhanced complement susceptibility.
Moreover, the lymphocyte recovery ability (post-CRT ALC divided by pre-CRT ALC) was not affected by lymphopenia grade during CRT (0.66 in G0-3 vs. 0.65 in G4, p = 0.473).
The 102 patients with ALC1 ≤1,479 cells/μl (defined as lymphopenia) had significantly higher 10-year IBTR rate than the 102 patients with ALC1 >1,479 cells/μl (16.2% vs. 1%, p=0.0034).