X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world [PDF]
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications.
Zeinab A. El-Sayed +50 more
doaj +7 more sources
Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient [PDF]
We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic ...
Lauren Gunderman +6 more
doaj +4 more sources
Immune Thrombocytopenia in an Adult With X‐linked Agammaglobulinemia: A Case Report [PDF]
In patients with X‐linked agammaglobulinemia (XLA), serum immunoglobulins are almost completely lacking. The prevalence of autoimmune diseases is low in XLA compared with other primary immunodeficiency diseases because antibodies are absent in XLA ...
Takeaki Matsunaga +6 more
doaj +3 more sources
JOINT DISEASE IN CHILDREN WITH X-LINKED AGAMMAGLOBULINEMIA [PDF]
Patients with X-linked agammaglobulinemia (XLA) are prone to recurrent bacterial infections due to low levels of immunoglobulins. Clinical symptoms include recurrent bacterial otitis media, bronchitis, pneumonia, meningitis, skin infection and arthritis ...
Lidija Kareva +2 more
doaj +2 more sources
Clinical case of primary immunodeficiency: X-linked agammaglobulinemia [PDF]
Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single ...
E. V. Kuvschinova +4 more
doaj +3 more sources
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 +2 more sources
Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association [PDF]
Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin.
Vasco Lavrador +6 more
doaj +2 more sources
X-linked agammaglobulinemia and isolated growth hormone deficiency [PDF]
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 +1 more source
Chronic immune thrombocytopenia in a child with X-linked agammaglobulinemia-an uncommon phenotype [PDF]
Autoimmune disorders are common in patients with primary immunodeficiency diseases (PIDs). However, the prevalence of autoimmunity is low in patients with X-linked agammaglobulinemia (XLA), mostly due to the absence of antibodies.
Jing Yin +5 more
doaj +2 more sources
Naïve Regulatory T Cell Subset Is Altered in X-Linked Agammaglobulinemia [PDF]
The interplay between T- and B-cell compartments during naïve, effector and memory T cell maturation is critical for a balanced immune response. Primary B-cell immunodeficiency arising from X-linked agammaglobulinemia (XLA) offers a model to explore B ...
Pavel V. Shelyakin +24 more
doaj +2 more sources

