Results 21 to 30 of about 11,478 (246)

FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency [PDF]

Current Issues in Molecular Biology
Folliculin-interacting protein 1 (FNIP1) is a key regulator of cellular metabolism and immune homeostasis, integrating nutrient signaling with proteostasis.
Samuele Roncareggi, Brian M. Iritani, Francesco Saettini   +2 more
doaj   +2 more sources

Agammaglobulinemia

Annals of Surgery, 1955
Robert A. Good, Richard L. Varco, Aust Jb, Lloyd D. MacLean   +3 more
openaire   +5 more sources

The dilemma of X-linked agammaglobulinemia carriers [PDF]

Journal of Allergy and Clinical Immunology: Global
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD   +19 more
doaj   +2 more sources

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, Isabela Garrido da Silva GONZALEZ, Maria Isabel de MORAES-PINTO, Beatriz Tavares COSTA-CARVALHO   +3 more
doaj   +2 more sources

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, Abdolreza Malek, Hamid Ahanchian   +2 more
doaj   +3 more sources

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

Case Reports in Immunology, 2022
Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections.
Ezgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, Ayca Aykut, Asude Durmaz, Guzide Aksu, Necil Kutukculer   +6 more
doaj   +1 more source

Clinical Case of Agammaglobulinemia Late Diagnosis in Preschool Child

Педиатрическая фармакология, 2022
Background. Agammaglobulinemia is a disease from the group of primary immune deficiencies with impaired antibodies production characterized by significant decrease or complete absence of B-cells.
Elena S. Kolevatova, Alla Yu. Shutkova, Elena V. Tush, Olga V. Khaletskaya   +3 more
doaj   +1 more source

Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel

Frontiers in Immunology, 2021
In the last few months the world has witnessed a global pandemic due to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection causing coronavirus disease 2019 (COVID-19).
Nufar Marcus, Nufar Marcus, Nufar Marcus, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, David Hagin, David Hagin, David Hagin, Adi Ovadia, Adi Ovadia, Adi Ovadia, Suhair Hanna, Suhair Hanna, Michael Farkash, Michael Farkash, Michael Farkash, Ramit Maoz-Segal, Ramit Maoz-Segal, Ramit Maoz-Segal, Nancy Agmon-Levin, Nancy Agmon-Levin, Nancy Agmon-Levin, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Elli Rosenberg, Elli Rosenberg, Amir Asher Kuperman, Amir Asher Kuperman, Yael Dinur-Schejter, Yael Dinur-Schejter, Yackov Berkun, Yackov Berkun, Ori Toker, Ori Toker, Ori Toker, Shmuel Goldberg, Shmuel Goldberg, Ronit Confino-Cohen, Ronit Confino-Cohen, Oded Scheuerman, Basel Badarneh, Basel Badarneh, Na‘ama Epstein-Rigbi, Amos Etzioni, Amos Etzioni, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Raz Somech, Raz Somech   +55 more
doaj   +1 more source

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). [PDF]

, 1994
The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic
Chen, SH, Hagemann, T, Kwan, SP, Nilsson, L, Ochs, HD, Rawlings, DJ, Saffran, DC, Smith, CI, Vihinen, M, Witte, ON, Zhang, M, Zhu, Q   +11 more
core   +1 more source

Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Revista Peruana de Medicina Experimental y Salud Pública, 2019
Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes.
Edgar Matos-Benavides, David Garcia-Gomero, Rosario Inocente-Malpartida, Wilmer Córdova-Calderón, Juan Aldave-Becerra   +4 more
doaj   +1 more source