Estado nutricional de pacientes pediátricos con deficiencia predominantemente de anticuerpos [PDF]
Biomédica: revista del Instituto Nacional de SaludIntroducción. La deficiencia predominantemente de anticuerpos es el grupo de errores inmunólogicos innatos más frecuente, sin embargo, hay poca información sobre el estado nutricional de los pacientes afectados. Objetivo.
Lina M. Castaño-Jaramillo +2 more
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Primera parte. Hombre de 45 años con neumonía grave, infección diseminada por citomegalovirus y agammaglobulinemia [PDF]
Biomédica: revista del Instituto Nacional de SaludSe trata de un paciente de sexo masculino de 45 años con tos persistente de cuatro meses de duración, acompañada de fiebre y una significativa pérdida de peso.
Mónica Fernandes Pineda +1 more
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Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer [PDF]
, 2004 X-linked agammaglobulinemia (XLA) is a human immunodeficiency caused by mutations in Bruton tyrosine kinase (Btk) and characterized by an arrest in early B-cell development, near absence of serum immunoglobulin, and recurrent bacteria infections.
Phyllis W. Yu +9 more
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Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia [PDF]
, 2010 Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood.
Vanessa Domingues Ramalho +4 more
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Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia [PDF]
Frontiers in ImmunologyIntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene.
Rada Miskovic +16 more
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Pseudomonas aeruginosa septic shock associated with ecthyma gangrenosum in an infant with agammaglobulinemia [PDF]
Revista do Instituto de Medicina Tropical de São Paulo, 2002 Ecthyma gangrenosum (EG) due to Pseudomonas aeruginosa is a rare and invasive infection that can be associated with agammaglobulinemia. The cornerstone of the treatment is based on prompt recognition with appropriate antibiotic coverage and intravenous ...
João Fernando Lourenço de ALMEIDA +3 more
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FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency [PDF]
Current Issues in Molecular BiologyFolliculin-interacting protein 1 (FNIP1) is a key regulator of cellular metabolism and immune homeostasis, integrating nutrient signaling with proteostasis.
Samuele Roncareggi +2 more
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PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT [PDF]
Revista do Instituto de Medicina Tropical de São Paulo, 2015 SUMMARY We describe the case of an eight-year-old boy with X-linked agammaglobulinemia who developed mild varicella despite regular intravenous immunoglobulin (IVIG) therapy.
Fernanda Aimée NOBRE +3 more
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Autosomal Recessive Agammaglobulinemia in Juvenile Idiopathic Arthritis: A Case Report [PDF]
Reviews in Clinical Medicine, 2020 The B lymphocyte developmental blocks agammaglobulinemia, leading to peripheral B cell depletion and plasma immunoglobulin reduction. Agammaglobulinemia is a rare yet severe disease since it is presented with recurrent sinopulmonary and skin, central ...
Azadeh Zare Feizabadi +2 more
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