Significance: Mendelian susceptibility to mycobacterial disease (MSMD) is defined by selective vulnerability to weakly virulent mycobacteria. The 32 known inborn errors of IFN-γ immunity account for MSMD in about half of the patients, and for a smaller proportion of cases of tuberculosis (TB). We report homozygous ZNFX1 variants in two families in which the index cases had MSMD or TB with intermittent monocytosis. Upon overexpression, the two variants encode truncated proteins. We show that human ZNFX1 is localized in ribonucleoprotein granules called stress granules. The patients’ production of and response to IFN-γ are apparently intact, and the patients have not experienced severe viral illnesses. Inherited deficiency of stress granule-associated ZNFX1 is a genetic etiology of MSMD or TB with intermittent monocytosis.

Antiphospholipid antibody (aPL)-persistent positivity is frequent in hemodialysis (HD) patients. Native arteriovenous fistula (AVF) complications such as stenosis and thrombosis are among the most important causes of morbidity and mortality in hemodialysis patients. The association between aPL positivity and AVF thrombosis seems to now be well established. However, whether aPL positivity is associated with other AVF complications, such as maturation failure or stenosis, is not well known. Given the significant impact of AVF failure on patient’s prognosis, it is of interest to further investigate this particular point in order to improve prevention, surveillance and treatment, and, ultimately, the patient’s outcome. This literature review aims to report the recent literature on aPL-associated native AVF complications.

Acquired factor XIII (FXIII) deficiency is a very rare haemostatic defect that can be either immune (rare development of an autoantibody targeting FXIII epitopes) or nonimmune (diminished synthesis or increased consumption of the same factor). The aim of this study is to review the symptomatology, the diagnostic method used, but above all to determine the most frequently used and potentially most effective treatment for acquired FXIII deficiency. PubMed, Medline, embase/Ovid databases were queried from 1 January 2012 to 3 April 2022. Data extraction was performed using the keywords ‘Acquired FXIII deficiency.’ The systematic search identified 474 records. After screening titles and abstracts, only 36 articles met the eligibility criteria. The mean age of all patients was 57.6 [range, 1–84] years. The male to female ratio was 35 : 25. The majority of cases described were due an autoimmune reaction with antibody production (24 manuscripts), only six manuscripts described consumption. The most prevalent symptoms were local haematoma (31). Six cases died, two from haemorrhagic shock, two from haemorrhagic stroke, one from respiratory distress, and 1 from septic shock. Given the patient outcomes, this review confirms that the most appropriate treatment consists of one of the following elements or a combination of several of these elements: FXIII concentrate, corticosteroids, cyclophosphamide, rituximab for autoimmune cases, and FXIII concentrate supplementation only in case of consumption.