Results 71 to 80 of about 10,731 (180)

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
ABSTRACT Background Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates.
Burcu Cil Yılmaz, Sibel Kaplan Sarikavak, Sezin Naiboglu, Gulsah Kalay, Erkan Cakmak, Ozge Turkyilmaz Ucar, Selami Ulas, Nermin Kapci, Pinar Gokmirza, Cigdem Aydogmus   +9 more
wiley   +1 more source

Absent B Cells, Agammaglobulinemia, and Hypertrophic Cardiomyopathy in Folliculin-interacting Protein 1 Deficiency [PDF]

, 2020
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia,
Cazzaniga, Gianni, Kroes, Wilma G M, Kroes, Wilma G. M., Vukic, Maja, Rodriguez, Fred H., Daxinger, Lucia, van Oostaijen-Ten Dam, Monique M, Moratto, Daniele, Jarur-Chamy, Valentina, Piazza, Rocco, van der Maarel, Silvère, Quadri, Manuel, Baas, Frank, Rivers, Elizabeth, Iascone, Maria, Orellana, Julio C, Booth, Claire, Vengoechea, Jaime, Lupski, James R, Lupski, James R., Chinn, Ivan K., Noguera, Loreani, Saettini, Francesco, Bonanomi, Sonia, Yuan, Bo, Badolato, Raffaele, Bugarin, Cristina, Shams, Marissa, Noguera, Loreani P, Biondi, Andrea, Oostaijen-Ten Dam, Monique M. van, Coban-Akdemir, Zeynep H, Mauri, Mario, Gaipa, Giuseppe, Chinn, Ivan K, Rodriguez, Fred H, Coban-Akdemir, Zeynep H., Fazio, Grazia, Poli, Cecilia, Orellana, Julio C., Gasperini, Serena, Barroeta Seijas, Amairelys, Maarel, Silvère van der, Yuan, Boi   +43 more
core   +1 more source

Artritis asociada a agammaglobulinemia primaria: nuevas pistas sobre su inmunopatología

, 2020
Primary agammaglobulinemia is a rare disorder which is associated with articular symptoms in 11% of patients. Septic arthritis may occur, but often patients complain of chronic oligoarthritis and have a clinical presentation similar to rheumatoid ...
Sany, J., Andary, M., Baldet, P., Serre, I., Jorgensen, CH., Didry, C, Anaya, Juan-Manuel   +6 more
core   +1 more source

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

, 2015
International audienceX linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections, profound decrease of all immunoglobulin
Wing Chang, Koon, Lau, Yu-Lung, Tahiat, Azzedine, Chaib, Samia, Magdinier, Frédérique, Smati, Leila, Boushaki, Soraya, Djidjik, Réda, Benhalla, Nafissa, Bensenouci, Abdellatif, Meddour, Yanis   +10 more
core   +1 more source

Recurrent pulmonary alveolar proteinosis secondary to agammaglobulinemia

, 2008
Pulmonary alveolar proteinosis (PAP) is characterized by the accumulation of surfactant derived material in the lung of patients. PAP is rare in children. The patient presented with respiratory failure.
AKYILDIZ, Basak, Başak Akyıldız, GÜLMEZ, Inci, Patiroglu, Türkan, Tahir E. Patiroglu, Inci Y. Gulmez, Türkan Patiroglu, PATIROGIU, Tahir E.   +7 more
core   +1 more source

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features

We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents.
Conley ME, Coady AM, Crow YJ, Gennery AR, Goodship JA, Wright C   +5 more
core   +5 more sources

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features

, 2006
We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents.
Crow, Yanick Joseph, A.M. Coady, M.E. Conley, A.R. Gennery, Yanick Joseph Crow, Conley, M. E., C. Wright, Goodship, J. A., Gennery, A. R., Coady, A. M., J.A. Goodship, Wright, C.   +11 more
core   +1 more source

Agammaglobulinemia ligada A X Y onicodistrofia: dos nuevas mutaciones en el gen BTK y exclusión de mutaciones en el gen SOX9

Iatreia, 2010
La agammaglobulinemia ligada al cromosoma X ó Agammaglobulinemia de Bruton es una inmunodeficiencia que se caracteriza por ausencia de algunas inmunoglobulinas séricas, disminución de los linfocitos B tanto en la médula ósea como en la sangre periférica,
Carolina Rivera Nieto, Taryn Castro, Carlos Olmos, Carlos M. Restrepo, Paul Laissue   +4 more
doaj  

Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections

Frontiers in Immunology, 2018
Patients with primary immunoglobulin deficiency have lower immunoglobulin levels or decreased immunoglobulin function, which makes these patients more susceptible to bacterial infection.
Jeroen D. Langereis, Jeroen D. Langereis, Michiel van der Flier, Michiel van der Flier, Michiel van der Flier, Michiel van der Flier, Marien I. de Jonge, Marien I. de Jonge   +7 more
doaj   +1 more source

A Review of Primary Immune Deficiency Disorders

European Medical Journal Allergy & Immunology, 2020
This scenario-based review of primary immunodeficiency diseases (PIDD) discusses the differential diagnosis, usual presentations, work-up, and treatment of children with the most commonly encountered immune disorders.
Talin Darian, Joudeh B. Freij, Divya Seth, Pavadee Poowuttikul, Elizabeth Secord   +4 more
doaj