Sixty-four children were recalled for follow-up due to low TREC and/or KREC levels, and three patients with immunodeficiency (Artemis-SCID, ATM, and an as yet unclassified T cell lymphopenia/hypogammaglobulinemia) were identified.
These findings identify the genomic instability associated with V(D)J recombination at the TCRδ locus as the molecular origin of both lymphocytopenia and the signature t(12;14) translocations associated with ATM deficiency.
Mouse model expressing kinase-dead ATR (Atr<sup>+/KD</sup>), but not loss of ATR (Atr<sup>+/-</sup>), displays ssDNA-dependent defects at the non-homologous region of X-Y chromosomes during male meiosis leading to sterility, and at telomeres, rDNA, and fragile sites during mitosis leading to lymphocytopenia.
This profile was particularly evident in cultures from patients with severe CD4+ lymphopenia and paralleled an apparent expansion of the CD8+/CD57+ suppressor cell subset.
Our findings demonstrate a significant lymphopenia in patients treated with the BRAF inhibitor vemurafenib, which is further augmented by dexamethasone and predisposes to infection.
In the pSS group, anaemia (<i>p</i> = 0.0085), lymphocytopenia (<i>p</i> = 0.0006), elevated ERS (<i>p</i> = 0.001), higher RF titer, and ANA antibodies were noted.
Newborn screening for kappa-deleting-recombination-excision circles (KRECs) reliably identifies classical X-linked agammaglobulinaemia (XLA) patients with profound B-cell lymphopenia at birth but has not been evaluated in patients with residual BTK function.
The presence of albuminuria, lymphopenia and low complement C3 levels were independent prognostic predictors of short-term mortality in SLE patients with PI.
In this study, we show that CBLB, a negative regulator of TCR signaling, suppresses CD8<sup>+</sup> T cells in response to inactivated fungal vaccination in a mouse model of CD4<sup>+</sup> T cell lymphopenia.
T cell chemotaxis to sphingosine 1-phosphate (S1P) and the chemokines CCL21 and CCL5 was studied in ten adults with T lymphocytopenia, other immunological abnormalities (nine of ten), and frequent bacterial infections (seven of ten).