Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity.

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.

Background: Complete signal transducer and activator of transcription 1 (STAT1) deficiency causes a rare primary immunodeficiency that is characterized by defective IFN-dependent gene expression leading to life-threatening viral and mycobacterial infections early in life.

Objective: To characterize a novel STAT1 loss-of-function variant leading to pathological infection susceptibility and hyperinflammation.

Methods: Clinical, immunologic, and genetic characterization of a patient with severe infections and hemophagocytic lymphohistiocytosis-like hyperinflammation was investigated.

Comprehensive literature review of the sources of infection and transmission routes of Coxiella burnetii, with particular regard to the criteria of "evidence-based medicine".

The present review aims to compile the currently available literature since 1936 according the sources of infection of the Q fever pathogen (Coxiella (C.) burnetii) as well as the transmission from animal to man and also from human to human. In terms of quality and validity, the existing publications were reviewed systematically.