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Resumo: O presente artigo analisa a recepção do Laboratório da Fundação Rockefeller na Bahia, entre 1928 e 1930, como propulsor de interações entre agentes de saúde e agentes de construção de conhecimento cient...

Materias / palabras clave: OpenAIRE; Research Graph; publications; 03 medical and health sciences; Medicine; 0601 history and archaeology; 06 humanities and the arts; Public aspects of medicine; RA1-1270; 0305 other medical science; Crossref; inst...

Testemunho da história, peça da memória social, fonte valiosa para produção de conhecimento em várias áreas, o filme educativo em saúde ainda espera por seu resgate e promoção como objeto de pesquisa. No âmbit...

Testemunho da história, peça da memória social, fonte valiosa para produção de conhecimento em várias áreas, o filme educativo em saúde ainda espera por seu resgate e promoção como objeto de pesquisa. No âmbit...

Serum sickness is an immune complex-mediated hypersensitivity reaction, classically manifested by the triad of fever, rash, and arthralgias. It results from the formation and deposition of antigen–antibody complexes, l...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...

Hoyeraal-Hreidarsson syndrome (HHS) represents the most severe form of dyskeratosis congenita (DC), a telomere biology disorder caused by pathogenic variants in genes involved in telomere maintenance. DKC1 encodes dysker...

CD40L-deficient X-linked hyper IgM (XHIGM) syndrome is characterized by defective B cell class switching, deficiency of immunoglobulins G, A, and E, plus other immune abnormalities due to disrupted CD40L–CD40 interacti...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

We present the case of a 17-year-old male with a long-standing history of recurrent and persistent cutaneous abscesses beginning at 6 years of age. Lesions were widespread, affecting the scalp, trunk, buttocks, and extre...

Deficiency in ELF4, X-linked (DEX) is a monogenic autoinflammatory disorder caused by loss-of-function (LOF) mutations in the ETS transcription factor ELF4. This rare disorder primarily affects young, male patients due t...

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

IntroductionPathogenic variants in the COPA gene are associated with autosomal-dominant autoimmune interstitial lung, joint, and kidney disease, a condition known as COPA syndrome. It is associated with a type I interfer...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

RationaleActivated PI3K delta syndrome (APDS) is a rare primary immunodeficiency disease (PID) characterized in 2013. Caregivers of children with APDS juggle management of complex medical needs with family and work respo...

IntroductionChronic spontaneous urticaria (CSU) is a clinical diagnosis managed according to American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) guide...

Dosing immunoglobulin G (IgG) replacement therapy in primary immunodeficiency disease (PIDD) depends on IgG pharmacokinetics (PK) and patients’ clinical status. Conventionally, PK data used to determine dosing were bas...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...