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BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

Abstract Background Antemortem diagnosis of degenerative myelopathy (DM) in dogs is presumptive and there are no accepted guidelines for the management of this condition. Hypothesis/Objectives Describe current practices ...

Autoimmune cytopenias (AIC) are characterized by immune-mediated destruction of platelets (immune thrombocytopenia [ITP]), red blood cells (autoimmune hemolytic anemia [AIHA]), neutrophils (autoimmune neutropenia [AIN]),...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

Abstract Non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) aiming to assess cell-free embryonic DNA in spent culturemedia is promising, especially because it might overcome the diminished rates of i...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

Abstract Background Hemolytic uremic syndrome (HUS) is classically defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) and is most often associated with renal thromb...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

IntroductionComplement C2 deficiency is a classical pathway defect associated with recurrent infections and autoimmunity. This case demonstrates the need for increased awareness amongst rheumatologists for the indication...

IntroductionLow T cell receptor excision circles (TRECs) on newborn screen and severe T cell lymphopenia in a term newborn raise concern for severe combined immunodeficiency (SCID). Genetic polymorphisms in thiopurine me...

Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact ...

IntroductionAdenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder comprising ∼15% of SCID cases. Newborn screening (NBS) relies on T cell receptor excision circl...

Abstract Background Serum beta-human chorionic gonadotropin (β-hCG) hormone is a well-established biomarker used for pregnancy monitoring and prognosis in in vitro fertilization (IVF) cycles. After embryo transfer, a hi...

Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription factor, hepatocyte nuclear factor-1 beta (HNF1B). Although numerous HNF1B...

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to fu...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challen...

BackgroundTelomere biology disorders (TBD) are rare multisystem disorders characterized by a wide array of clinical presentations, including bone marrow failure, pulmonary fibrosis, and malignancy predisposition due to p...

BackgroundCommon variable immunodeficiency (CVID) is diagnosed at ages ≥4 years with hypogammaglobulinemia across more than two immunoglobulin classes, leading to impaired vaccine responses, frequent infectious, autoim...

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, with an estimated incidence rate of two to eight cases per million people, and one of the highest heritability rates among neoplasms, with a genetic ca...

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) provides the main cellular source of NADPH through the pentose phosphate pathway, supporting antioxidant defenses and metabolic programs required for hematopoietic devel...