Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series.

Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency.

Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology.

The Spectrum of Niemann-Pick Type C Disease in Greece.

Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes.

Age, beta thalassaemia trait, and iron-deficient anaemia significantly affect reticulocyte indices in pre-school children.

Background: Reticulocyte indices are easy to obtain, low cost parameters and have gained interest in the field of diagnosing anaemias of childhood.

Methods: We assessed distribution, age and gender variation, relation to indices of iron metabolism and diagnostic performance of reticulocyte haemoglobin content (CHr), percentage of microcytic reticulocytes (micro_r), percentage of hypochromic reticulocytes (hypo_r), and percentage of reticulocytes with low CHr (low_CHr) in 386 pre-school children classified in four groups: healthy, iron deficiency (ID), iron deficiency anaemia (IDA), and beta-thalassaemia carriers (beta-thal).

Results: Age had a positive effect in CHr (Spearman's rho = 0.

Serum transferrin receptors: Distribution and diagnostic performance in pre-school children.

Soluble transferrin receptors have gained interest in the field of diagnosing anemias. Reference ranges differ according to the method used for the quantification of sTfR. We aim to explore the distributional properties and diagnostic performance of sTfR in pre-school healthy children as well as in children with beta-thalassemia carriers, iron deficiency with normal hematological phenotype (ID) and iron deficiency anemia (IDA).

Membranous nephritis associated with acquired cytomegalovirus infection in a 19-month-old baby.

Membranous nephritis (MN) is a rare form of glomerulonephritis in childhood, with an incidence of 0.8 to 6.7% based on renal biopsy specimens.

Serum amyloid A protein levels as a possible aid in the diagnosis of acute appendicitis in children.

Hematological and biochemical tests, including white blood cell count (WBC), C-reactive protein (CRP) and other acute-phase reactants, have been used in the diagnosis of acute appendicitis. However, there is controversy among physicians about the value of this practice in children. The objective of our study was to evaluate serum amyloid A protein (SAA) levels in children with confirmed acute appendicitis and to compare the sensitivity and specificity of this marker of inflammation with those for WBC and CRP.