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X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. The XLA gene plays a crucial role in the transition of pre-B cells to later B cell stages, as hardly any slg-positive B lymphocytes can be detected.
R.K.B. Schuurman+4 more
openaire +3 more sources
New Horizons for Multiple Sclerosis Therapy: 2025 and Beyond
The advances achieved against multiple sclerosis (MS) represent one of the great success stories of modern molecular medicine. The development of therapies with increasing selectivity and safety, guided by gains in understanding the fundamental immunology, neurobiology, genetics, and triggers of this disease, have broadened the traditional focus on ...
Joseph J. Sabatino Jr.+2 more
wiley +1 more source
A Review of Primary Immune Deficiency Disorders
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+4 more
doaj
Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia [PDF]
Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited.
ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue
doaj
ABSTRACT Objective Young adults (YAs) undergoing hematopoietic stem cell transplantation (HSCT) often face significant transplant‐related morbidity and mortality. Advance care planning (ACP) discussions can provide YAs with the opportunity to address treatment goals and care preferences with their family members and healthcare team.
Anna Katharina Vokinger+8 more
wiley +1 more source
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily [PDF]
Background: The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago.
Brunak, Søren+5 more
core +4 more sources
The study subjects were mainly CRC patients (n = 120), all of whom underwent the same comprehensive treatment regimen and were divided into the effective treatment group (n = 86) and the ineffective treatment group (n = 34) according to efficacy after treatment.
Hong‐Bo Ji+4 more
wiley +1 more source
X-linked agammaglobulinemia and isolated growth hormone deficiency
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan+3 more
doaj
Oral management of a patient with down syndrome and agammaglobulinemia: a case report
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto+4 more
doaj +1 more source
Chapter Three. EED library as a basis for systematic reviews [PDF]
3.1 Defining Systematic Review Question Priorities 3.2 Determining Relevance to the Systematic Review 3.3 Acquisition of References and Copyright Fair Use Compliance 3.4 Documenting Relevance to the Systematic Review 3.5 Data Extraction for the ...
Denno, Donna M+4 more
core +1 more source