Takayasu arteritis is characterised by disturbances of B cell homeostasis and responds to B cell depletion therapy with rituximab.

Unlabelled: Introduction Takayasu arteritis (TA) is a large vessel vasculitis involving the aorta and its major branches. T cell-mediated autoimmunity is thought to play a major role in its pathogenesis, while the role of B cells is still unclear.

Methods: B cell subsets in the peripheral blood of 17 patients with TA were analysed and compared with nine patients with active systemic lupus erythematosus (SLE) and nine healthy controls by flow cytometry.

Prevention of secondary ischemic events by superficial temporal artery-middle cerebral artery bypass surgery after tuberculosis-induced vasculopathy in a 5-year-old child.

Tuberculosis-related vasculopathy and resulting ischemic events are a common finding after tuberculous meningitis (TBM) in children. The authors report on a case of recurring ischemic episodes that were refractory to repetitive endovascular procedures (transluminal angioplasty, stent insertion, in-stent vessel dilation). After failure of endovascular treatment, extracranial-intracranial (EC-IC) bypass surgery was performed to prevent further ischemia.

Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF) is characterised by recurrent periodic febrile attacks and persistent subclinical inflammation. The damage-associated molecular pattern (DAMP) protein S100A12 has proven to be a sensitive marker for disease activity and inflammation in numerous inflammatory disorders. The aim of this study was to analyse the role of S100A12 in the detection of inflammation in patients with FMF.

Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?

We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly of the hands and syndactyly between the second and third toes of both feet, thrombocytopenia, and granulocytopenia. In addition, she had extremely low amounts of natural killer cells that were phenotypically normal but lacking cytotoxic activities. Clinically this defect was associated with recurrent and severe respirator-dependent pneumonia of viral and bacterial origin.

Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement.

The daily application of colchicine is the standard therapy for prophylaxis of attacks and amyloid deposition in familial Mediterranean fever. However, because of many issues (eg, dosage, time of introduction, etc), no standardized treatment recommendations have been established. In this work we review the available literature on colchicine use with respect to its indication, efficacy, mode of application, and safety in children and adolescents with familial Mediterranean fever.

Uncommon synovial cysts in children.

Unlabelled: Popliteal synovial cysts (Baker's cysts) are a common occurrence in children and adults. Synovial cysts in other locations and/or with atypical extension are less common and may be confounded with tumors or other medical conditions. In this article we describe the underlying disease, clinical presentation and clinical course in six children with a sudden onset of paraarticular soft tissue masses or non-specific chronic pain.

Melorheostosis of the hand in a 7-year-old girl.

Melorheostosis of the hand is rare. We report a 7-year-old girl who presented with a contracture of the left hand. Diagnosis was made by conventional radiography and bone scintigraphy.

Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis.

An adolescent boy had had recurrent episodes of fever, abdominal pain, and arthralgias since the age of 7 years. Progressive renal failure due to renal amyloidosis developed, leading to renal transplant at the age of 14.5 years.

Pulmonary symptoms in Kawasaki disease.

The diagnosis of Kawasaki disease is based on 6 clinical criteria, 5 of which must be fulfilled. The presence of uncommon symptoms in addition to the classic criteria can be as misleading as the lack of common ones. Here we report 2 infants with marked pulmonary symptoms in the course of Kawasaki disease who were initially diagnosed with pneumonia.

Pulmonary re-occurrence of post-transplant lymphoproliferative disease with hypogammaglobulinaemia.

Unlabelled: We report the case of a 12-year-old boy, who developed Epstein-Barr virus (EBV) associated post-transplant lymphoproliferative disease (PTLD) 7 years after renal transplantation. He responded well to the reduced immunosuppressive therapy and treatment with ganciclovir. Two years later he developed severe pneumonia and hypogammaglobulinaemia related to EBV infection exacerbation.

Semicircular lipoatrophy in a child with systemic lupus erythematosus after subcutaneous injections with methotrexate.

Lipoatrophia semicircularis, a rare entity which presents as atrophic cutaneous indentations exclusively on the anterior thighs of women, is thought to result from physical trauma. Localized lipoatrophies are common following injection with drugs and occur in patients with collagen disease. We report a 10-year-old girl who developed semicircular lipoatrophy on the anterior thighs after treatment of systemic lupus erythematosus (SLE) with subcutaneous injections of methotrexate.