Results 91 to 100 of about 163,168 (216)

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing ...
Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk   +14 more
wiley   +1 more source

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan

Pediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Purpose Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer.
Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu‐Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui‐Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama   +17 more
wiley   +1 more source

PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT

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   +1 more source

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency

Human Mutation, Volume 2025, Issue 1, 2025.
Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID is genetically heterogeneous and occurs in sporadic or familial forms with different inheritance patterns. Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in ...
Tayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, Mansoor Salehi, Fatemeh Ranjbarnejad, Nasimeh Vatandoost, Mohammadreza Sharifi, Aziz ur Rehman Aziz   +7 more
wiley   +1 more source

Arthritis and X-linked agammaglobulinemia.

Acta reumatologica portuguesa, 2008
Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system. Immunodeficiency and arthritis can be related, although the mechanisms are not always clear.
Machado, P, Santos, A, Faria, E, Silva, J, Malcata, A B, Chieira, C   +5 more
openaire   +2 more sources

Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia

Case Reports in Pediatrics, 2013
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins.
Paola Ariganello, Giulia Angelino, Alessia Scarselli, Irene Salfa, Martina Della Corte, Arianna De Matteis, Patrizia D'Argenio, Susanna Livadiotti, Emma C. Manno, Cristina Russo, Andrea Finocchi, Caterina Cancrini   +11 more
doaj   +1 more source

Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults

Respiratory Research, 2001
Background X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by disruption of the Bruton's tyrosine kinase (BTK) gene. Typical XLA patients suffer recurrent and severe bacterial infections in childhood.
Tsuchiya Shigeru, Miyawaki Toshio, Tsukada Satoshi, Hagiwara Koichi, Tazawa Ryushi, Sasahara Yoji, Usui Kazuhiro, Nukiwa Toshihiro   +7 more
doaj   +1 more source

X-Linked Agammaglobulinemia with Kawasaki Disease [PDF]

Indian Journal of Pediatrics, 2022
Sakshi Shakya, Anu Maheshwari, Kakarla Divya, Bharat Ravi Katti, Ackshaya R, Deonath Mahto   +5 more
openaire   +2 more sources

X-linked agammaglobulinemia: clinical and immunologic evaluation of six patients

The Turkish Journal of Pediatrics, 1990
The clinical and immunologic features of six patients with X-linked agammaglobulinemia (XLA) are presented. The most common presenting manifestations were respiratory and gastrointestinal tract infections.
F Ersoy, O Sanal, I Tezcan, A I Berkel
doaj  

Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion. [PDF]

, 1988
Jerrold Schwaber, N Koenig, J. Girard
openalex   +1 more source