Anti-Neuronal IgG4 Autoimmune Diseases and IgG4-Related Diseases May Not Be Part of the Same Spectrum: A Comparative Study.

Background: IgG4 is associated with two emerging groups of rare diseases: 1) IgG4 autoimmune diseases (IgG4-AID) and 2) IgG4-related diseases (IgG4-RLD). Anti-neuronal IgG4-AID include MuSK myasthenia gravis, LGI1- and Caspr2-encephalitis and autoimmune nodo-/paranodopathies (CNTN1/Caspr1 or NF155 antibodies). IgG4-RLD is a multiorgan disease hallmarked by tissue-destructive fibrotic lesions with lymphocyte and IgG4 plasma cell infiltrates and increased serum IgG4 concentrations.

Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.

Mutations of the interleukin 2 receptor γ chain (IL2RG) result in the most common form of severe combined immunodeficiency (SCID), which is characterized by severe and persistent infections starting in early life with an absence of T cells and natural killer cells, normal or elevated B cell counts and hypogammaglobulinemia. SCID is commonly fatal within the first year of life, unless the immune system is reconstituted by hematopoietic stem cell transplantation (HSCT) or gene therapy. We herein describe a male infant with X-linked severe combined immunodeficiency (X-SCID) diagnosed at 5 months of age.

[Successful therapy of sacroiliitis in SAPHO syndrome by etanercept].

Painful, aseptic osteitis remains the major problem in the treatment of patients with SAPHO syndrome. We present a child suffering of both sacroiliitis and acne conglobata in the context of SAPHO syndrome. While acne lesions responded well to systemic isotretinoin, sacroiliitis associated pain could be controlled neither by NSAR nor by intralesional or systemic steroid injection.

[Imaging of non-traumatic spinal diseases in children].

Pain is also the main symptom of spinal diseases in children. The younger the child, the more frequently organic causes are to be found, whereas in adolescents functional dorsalgia and lumbalgia are ubiquitous. Apart from the neonatal period, where ultrasound is used as the primary method for investigation of closed spinal dysraphia, radiography is still considered to be the first choice examination, which nevertheless should only be carried out after a thorough anamnesis and clinical examination.

Hyperhomocysteinemia in children with juvenile idiopathic arthritis is not influenced by methotrexate treatment and folic acid supplementation: a pilot study.

Objective: Our first objective was to compare plasma total homocysteine (tHcy) concentrations in juvenile idiopathic arthritis (JIA) patients requiring methotrexate (MTX) treatment and healthy children. Our second aim was to evaluate the influence of low-dose (10-15 mg/m2/week) MTX treatment combined with folic acid supplementation (1 mg/d) or placebo on tHcy concentrations in JIA patients.

Methods: In 17 JIA patients and 17 age- and sex-matched healthy children, baseline tHcy concentrations were measured.