Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain largely unknown. Methods We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their relatives. Results We identified 12 heterozygous GATA2 mutations, two of which had not been reported. Eight of these mutations were loss-of-function, and four were hypomorphic. None was dominant-negative in vitro, and the GATA2 locus was found to be subject to purifying selection, strongly suggesting a mechanism of haploinsufficiency. Three relatives of index cases had mycobacterial disease and were also heterozygous, resulting in 18 patients in total. Mycobacterial infection was the first clinical manifestation in 11 patients, at a mean age of 22.5 years (range: 12 to 42 years). Most patients also suffered from other infections, monocytopenia, or myelodysplasia. Strikingly, the clinical penetrance was incomplete (32.9% by age 40 years), as 16 heterozygous relatives aged between 6 and 78 years, including 4 older than 60 years, were completely asymptomatic. Conclusion Clinical penetrance for mycobacterial disease was found to be similar to other GATA2 deficiency-related manifestations. These observations suggest that other mechanisms contribute to the phenotypic expression of GATA2 deficiency. A diagnosis of autosomal dominant GATA2 deficiency should be considered in patients with mycobacterial infections and/or other GATA2 deficiency-related phenotypes at any age in life. Moreover, all direct relatives should be genotyped at the GATA2 locus.

•Anti–leucine-rich glioma-inactivated 1 (anti-LGI1) encephalitis can present with focal seizures and behavioural complaints.•"Goosebumps" focal autonomic seizures represent an alternative clinical manifestation to facial-bachial seizures in anti-LGI1 encephalitis.•Stereotyped goosebumps in patients with an orbitofrontal syndrome should raise a red-flag of possible anti-LGI1 encephalitis, even with normal brain magnetic resonance imaging and electroencephalogram.

Introduction: Nocardiosis emerges as a serious infection in the immunocompromised patient, causing an aggressive clinical picture, which requires prolonged treatment. Case presentation: We present five cases of disseminated nocardiosis in patients under corticosteroid therapy with four different forms of clinical presentation. Conclusion: Immunocompromised patients are at increased risk of disseminated nocardiosis, which may require extended culture time for diagnosis and molecular methods. The cases emphasize the relevance of a careful evaluation of the central nervous system, a common target in nocardiosis dissemination.