No abstract

No abstract

Cryopyrin-associated periodic syndromes (CAPSs) are a growing family of autoinflammatory diseases, also known as periodic fever syndromes. There are three forms of CAPS: (1) Familial Cold autoinflammatory syndrome or familial cold urticaria, (2) Muckle-wells syndrome, and (3) neonatal-onset multisystem inflammatory disease or chronic infantile neurological cutaneous articular syndrome. Genetic mutations in the NLRP3 gene were found to be present in most patients. The foremost common findings between all the CAPS disorders are rash, fever which is sometimes present at birth or in early childhood, joint problems, and conjunctivitis. More extreme forms of CAPS include more persistent inflammation that can cause hearing loss and meningitis and can lead to mental and developmental delays. Drugs for CAPS target the source of inflammation – which is the over-production of interleukin 1ß by modified cryopyrin inflammasomes. Three drugs are used to treat CAPS: Rilonacept, canakinumab, and anakirna. With these drugs, the prognosis is greatly improved, with most patients having less frequent episodes, decreased buildup of amyloid in the body, and extended life of severe cases up to adulthood.

To the Editor, ZIP7 deficiency is the most recently described congenital agammaglobulinemia with autosomal recessive inheritance. 1 ZIP7, encoded by SLC39A7, is an endoplasmic reticulum-to-cytoplasm Zn 2+ transporter. Developing B cells are sensitive to altered Zn 2+ distribution, which causes developmental blockade beyond the pre-B cell stage. 2 Complete loss of ZIP7 in cell lines causes a reduction in cytoplasmic Zn 2+ and an increase in endoplasmic reticulum Zn 2+ concentration. Since the original report in 2019, no additional cases of ZIP7 deficiency have been published. Here, we describe a patient evaluated for recurrent respiratory tract infections, meningitis, agammaglobulinemia, and B cell lymphopenia, ultimately found to carry a novel SLC39A7 variant. We describe his clinical characteristics, immunological findings, and genetic investigations.We also report on the impact of the J Project (JP) in improving primary immunodeficiency (PID) patient care and research in Eastern and Central Europe (ECE).The patient and his family members were interviewed, examined, treated, and monitored at the University Clinic for Children's Disease in Skopje. Medical records were obtained from the electronic registry of the University Clinic. The mother of the patient has given written informed consent to conduct the study and for the publication of data. All procedures were performed in accordance with the ethical standards of the Institutional Research Committee.Genomic DNA from the patient and his family members was isolated with the Gen Elute Blood Genomic DNA kit (Sigma-Aldrich) and subjected to whole-exome sequencing (WES) in the patient and targeted gene sequencing in the patient and available family members. 3 WES was performed at the New York Genome Center and the Rockefeller University using an Illumina HiSeq 2500 sequencing system (Illumina). Exome capture was carried out with SureSelect human all exome kit (Agilent) in accordance with the manufacturer's instructions. Putative disease alleles found by WES were validated by dideoxy Sanger sequencing in the patient AND in family members. Exons and flanking intronic regions of SLC39A7 wereThis is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.