34 documents found, page 1 of 4

Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Com...

Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent...

The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoi...

Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity and autoinflammation are especially challenging, as they are characterized by diverse clinical phenotypes and highly variable expressivity. The GAIN consortium (German multi-organ Auto Immunity Network) develop...

Case Report: Patient with Deficiency of ADA2 Presenting Leukocytoclastic Vascul...

Haploidentical α/β T-cell and B-cell Depleted Stem Cell Transplantation in Seve...

Objective: Mevalonic aciduria represents the most severe form of mevalonate kinase deficiency (MKD). Patients with mevalonic aciduria have an incomplete response even to high doses of anti-cytokine drugs such as anakinra or canakinumab and stem cell transplantation (SCT) represents a possible therapy for this severe disease. Methods: We report the first two children affected by severe MKD who received haploiden...

Kingella kingae: An Unlikely Cause of Meningitis

Kingella kingae is the leading cause of osteoarticular infections between 6 and 48 months, a well-known cause of pediatric bacteremia and endocarditis and has been rarely associated with meningitis. We report a case of a healthy 10-year-old boy with meningitis due to Kingella kingae who presented with a history of severe headache, vomiting and prostration.

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

nborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Dise...

Background and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD...

Plerixafor for the Treatment of WHIM Syndrome

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which ...

Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in...

Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading...

Mycobacterium Bovis, uma Causa Rara de Abcesso da Parede Torácica

Introdução: A infeção por M. bovis está provavelmente subvalorizada, estimando-se uma frequência de 1-2% dos casos de tuberculose nos países desenvolvidos. Relato de Caso: Rapaz de 12 meses, naturalidade portuguesa e residente em Angola, vacinado à nascença com BCG-Japan, internado em Angola desde os 10 meses por pneumonia complicada de empiema, tendo sido isolados S. aureuse P. aeruginosa. Aos 11 meses por apa...