43 documents found, page 1 of 5

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

Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene

C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of...

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure...

Anti-photoaging Cream using a Quercus Suber Extract

This work aims at developing a new chemical product, which involves all the product design stages, starting from the evaluation of market needs, generation of ideas, selection of the selected idea and finally, the decision of the manufacturing process. During this analysis, it was decided to use the ellagic acid extracted from cork powder, a cork industry waste, to create our final product: an anti-photoaging c...

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hype...

X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SC...

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused ...

Granulibacter bethesdensis is a pathogen reported to cause recurrent lymphadenitis exclusively in persons with chronic granulomatous disease. We report a case of fatal meningitis caused by a highly virulent G. bethesdensis strain in an adolescent in Europe who had chronic granulomatous disease.

Immunological Reconstitution Inflammatory Syndrome and Thrombotic Microangiopat...

Some patients with human immunodeficiency virus (HIV) infection deteriorate shortly after starting highly active antiretroviral therapy (HAART), the so-called immunological reconstitution inflammatory syndrome (IRIS).1 Although having a spontaneous resolution in many instances, it can be fatal.1 Worse prognosis is seen in younger children, severe immunosuppression and central nervous system IRIS, or infections ...

Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a ...

Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease is classically associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an invasive meningococcal disease caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.

H Factor Deficiency: A Case with an Atypical Presentation

We report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child ...

Pulmonary sequestration: an experience in a level III hospital

Background: Pulmonary Sequestration (PS) is a rare congenital malformation, with few cases reported. Thus, the prenatal and postnatal natural history of PS and the best management approach have not been fully characterized. The aim of this study is to evaluate the experience with PS in our level III hospital, to improve our practice. Methods: A retrospective review of all cases with PS admitted to our hospital ...