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Autoimmune lymphoproliferative syndrome (ALPS) is a rare immunodeficiency caused by mutations in genes affecting the extrinsic apoptotic pathway (FAS, FASL, CASP10). This study evaluated the clinical manifestations, laboratory findings, and molecular genetic results of 215 patients referred as possibly having ALPS. Double-negative T-cell (DNT) percentage and in vitro apoptosis functional tests were evaluated by fluorescence-activated cell sorting; interleukin 10 (IL-10) and IL-18 and soluble FAS ligand (sFASL) were measured by enzyme-linked immunosorbent assay. Genetic analysis was performed by next-generation sequencing. Clinical background data were collected from patients' records. Patients were categorized into definite, suspected, or unlikely ALPS groups, and laboratory parameters were compared among these groups. Of 215 patients, 38 met the criteria for definite ALPS and 17 for suspected ALPS. The definite and suspected ALPS patient populations showed higher DNT percentages than unlikely ALPS and had higher rates of lymphoproliferation. Definite ALPS patients had a significantly more abnormal in vitro apoptosis function, with lower annexin, than patients with suspected ALPS (P = .002) and patients not meeting ALPS criteria (P < .001). The combination of elevated DNTs and an abnormal in vitro apoptosis functional test was the most useful in identifying all types of ALPS patients; the combination of an abnormal in vitro apoptosis functional test and elevated sFASLs was a predictive marker for ALPS-FAS group identification. Lymphoproliferation, apoptosis functional test, and DNTs are the most sensitive markers; elevated IL-10 and IL-18 are additional indicators for ALPS. The combination of elevated sFASLs and abnormal apoptosis function was the most valuable prognosticator for patients with FAS mutations., (© 2020 by The American Society of Hematology.)

People with intellectual disabilities who are deaf face obstacles participating in social environments that do not take into account their need for accessible visual communication. In the present case series, we describe the development of the adaptive skills profiles of eight participants in a fully inclusive therapeutic living community, designed specifically for people with developmental disabilities who are deaf and focused on supporting communication, social relationships, conflict resolution, and work satisfaction. Adaptive skills ratings collected at enrollment and twelve years later suggest increases in social awareness and community living, whereas personal care and homemaking showed relatively little change., (© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Introduction In recent decades, there has been a continuous rise in the average age at which women give birth. A maternal age of 35 years and above is considered an independent risk factor in pregnancy and birth, due to higher rates of intervention. This study investigates the influence of maternal age on birth procedure, gestational age, and rate of interventions during delivery. The influence of maternal parity is also analyzed. Material and Methods Data from the Austrian Register of Births was retrospectively collected and evaluated. The collected data was the data of all singleton live births in Austria between January 1, 2008 and December 31, 2016 (n = 686 272). Multiple births and stillbirths were excluded from the study. Maternal age and parity were analyzed in relation to predefined variables (birth procedure, gestational age, episiotomy in cases of vaginal delivery, epidural anesthesia in both vaginal and cesarean deliveries, and intrapartum micro-blood gas analysis). Statistical data was evaluated using (1) descriptive univariate analysis, (2) bivariate analysis, and (3) multinomial regression models. Results The cesarean section rate and the rate of surgically-assisted vaginal deliveries increased with advancing maternal age, especially in primiparous women, while the rate of spontaneous deliveries decreased with increasing maternal age. A parity of ≥ 2 had a protective effect on the cesarean section rate. The rate of premature births also increased with increasing maternal age, particularly among primiparous women. Discussion Although higher maternal age has a negative effect on various obstetric parameters, it was nevertheless not possible to identify a causal connection. Maternal age should not be assessed as an independent risk factor; other factors such as lifestyle or prior chronic disease and parity must be taken into consideration., Competing Interests: Conflict of Interest/Interessenkonflikt The authors declare that they have no conflict of interest./Die Autoren geben an, dass kein Interessenkonflikt besteht.

Loss-of-function mutations in the common gamma (γc) chain cytokine receptor subunit give rise to severe combined immunodeficiency characterized by lack of T and natural killer cells and infant death from infection. Hematopoietic stem cell transplantation or gene therapy offer a cure, but despite successful replacement of lymphoid immune lineages, a long-term risk of severe cutaneous human papilloma virus infections persists, possibly related to persistent γc-deficiency in other cell types. Here we show that keratinocytes, the only cell type directly infected by human papilloma virus, express functional γc and its co-receptors. After stimulation with the γc-ligand IL-15, γc-deficient keratinocytes show significantly impaired secretion of specific chemokines including CXCL1, CXCL8, and CCL20, resulting in reduced chemotaxis of dendritic cells and CD4 + T cells. Furthermore, γc-deficient keratinocytes also exhibit defective induction of T-cell chemotaxis in a model of stable human papilloma virus-18 infection. These findings suggest that persistent γc-deficiency in keratinocytes alters immune cell recruitment to the skin, which may contribute to the development and persistence of warts in this condition and would require different treatment approaches., (Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.)