Catharina Schuetz

TL;DR: In this article, the authors describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs, and they were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2).

TL;DR: It is demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies and indicates that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.

TL;DR: Data indicate that zinc-finger- and BTB24 is involved in DNA methylation of juxtacentromeric DNA and in B cell development and/or B and T cell interactions, and predicts that by studying the molecular function of ZBTB24, the understanding of the molecular pathophysiology of ICF syndrome and of lymphocyte biology in general will be improved.

TL;DR: There was no difference in survival or in the incidence or severity of acute graft-versus-host disease regardless of exposure to alkylating agents, however, ARTEMIS-deficient patients had a significantly higher occurrence of infections in long-term follow-up.

TL;DR: facial dysmorphism was found to be a common characteristic, especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears, and no genotype–phenotype correlation was found between patients with and without DNMT3B mutations.