After more than 50 years since the clinical entity was first described by Bruton in 1952, the molecular defect in X-linked agammaglobulinemia (XLA) has been elucidated. (medscape.com)
An estimated 90% of patients with early-onset agammaglobulinemia and absence of B cells have abnormalities in the Btk gene (ie, Bruton agammaglobulinemia or XLA). (medscape.com)
XLA is further discussed in detail in the article Bruton Agammaglobulinemia . (medscape.com)
The remaining type is early onset non-Bruton agammaglobulinemia, with low or absent serum immunoglobulin (Ig). (medscape.com)
Defects in the Bruton tyrosine kinase (BTK) gene cause agammaglobulinemia . (lu.se)
X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
Tyrosine kinase2
X-linked agammaglobulinemia (XLA) is an x-linked genetic disorder of the immune system caused by mutations in the BTK (Bruton's tyrosine kinase) gene. (osmosis.org)
Mutations in Brutons tyrosine kinase (Btk) within its PH domain cause X-linked agammaglobulinaemia (XLA) in patients. (embl.de)
Bruton's2
Colonel Bruton's kinase defined the molecular basis of X-linked agammaglobulinemia, the first primary immunodeficiency. (medscape.com)
Pyoderma Gangrenosum in a Patient with Bruton's X-linked Agammaglobulinemia: Shared Pathogenesis of Altered Tumor Necrosis Factor Alpha? (jcadonline.com)
Immunodeficiency disorder3
You have a family history of agammaglobulinemia or another immunodeficiency disorder and you are planning to have children. (medlineplus.gov)
X-linked agammaglobulinemia is a hereditary immunodeficiency disorder due to a mutation in a gene on the X (sex) chromosome. (msdmanuals.com)
X-linked agammaglobulinemia is a genetic immunodeficiency disorder. (naturalpedia.com)
Hypogammaglobulinemia2
Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for approximately 50% of cases. (medscape.com)
Genetic loss of BTK, as occurs in X-linked agammaglobulinemia, results in the absence of B cells and hypogammaglobulinemia. (haematologica.org)
Diagnosis2
Genetic testing may be done to confirm the diagnosis of X-linked agammaglobulinemia but is not usually needed. (msdmanuals.com)
We performed a retrospective review of the medical records of all PAD patients with a confirmed diagnosis of common variable immunodeficiency (CVID), hyper IgM syndrome (HIgM), selective IgA deficiency (SIgAD), and X-linked agammaglobulinemia (XLA) who were diagnosed during the last 30 years at the Children s Medical Center, Tehran, Iran. (jiaci.org)
20171
IDF 2017 National Conference session, "X-Linked Agammaglobulinemia (XLA)" was presented by Dr. Howard Lederman, MD, PhD and Dr. M. Elizabeth Younger, CRNP, PhD on June 16, 2017. (primaryimmune.org)
Symptoms1
Kids without Agammaglobulinemia can also present these symptoms. (mbbch.com)
Infection2
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. (wikipedia.org)
The American Society of Hematology defines it as an isolated thrombocytopenia with clinically no apparent associated conditions or no other cause of thrombocytopenia, such as HIV infection, systemic lupus erythematosus, lymphoproliferative disorders, myelodysplasia, agammaglobulinaemia or hypogammaglobulinaemia, drug-induced thrombocytopenia, alloimmune thrombocytopenia or congenital/hereditary non-immune thrombocytopenia [7]. (who.int)
Absent1
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K. (medscape.com)
Immunoglobulin3
Most cases are agammaglobulinemia with autosomal recessive/dominant heritage and represent a very heterogeneous group, including immunoglobulin (Ig) deficiency with increased immunoglobulin M (hyper-IgM syndrome), which is also discussed separately (see X-linked Immunodeficiency With Hyper IgM ). (medscape.com)
With X-linked agammaglobulinemia , or XLA for short, gamma globulin is another name for immunoglobulin, which is another name for antibodies, a- means without, and -emia refers to the blood. (osmosis.org)
Vancikova Z, Freiberger T, Vach W, Trojanek M, Rizzi M, Janda A. X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission. (medscape.com)
Recurrent2
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. (nih.gov)
We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. (nih.gov)
Disease1
Agammaglobulinemia, usually abbreviated as AGMX, is a disease with a genetic origin. (mbbch.com)
Disorder1
Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called immunoglobulins. (medlineplus.gov)
Gene2
Agammaglobulinemia only needs a single bad copy of a gene to express itself. (mbbch.com)
Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia. (lu.se)
CVID1
To do this we need help from people with CVID, as well as people with another immune deficiency called X-linked agammaglobulinemia (XLA). (edu.au)
Patients1
Two patients presented agammaglobulinemia, three presented hiper IgM syndrome and one IgA deficit. (bvsalud.org)
Disorders1
Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders . (medlineplus.gov)
Syndrome2
This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. (cdc.gov)
It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation. (cdc.gov)
Patient1
Campylobacter jejuni bacteremia and Helicobacter pylori in a patient with X-linked agammaglobulinemia. (medscape.com)
Clinical1
This case illustrates that the combined use of cell cultures and NGS can be a powerful tool for identify- Agammaglobulinemia, France ing unknown pathogens in clinical specimens when results from routine tests are negative and the patient's condition Nicolas Etienne, Laurent Bret, is undiagnosed. (cdc.gov)
Common1
As the form of agammaglobulinemia that is X-linked, it is much more common in males. (wikipedia.org)
People1
Agammaglobulinemia is inherited, which means other people in your family may have the condition. (medlineplus.gov)
Cells1
Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and is associated with a failure of Ig heavy chain rearrangement . (lu.se)
Means1
Agammaglobulinemia means an absence of gamma globulin in the blood. (mbbch.com)
Article1
Le présent article fait le point sur la recherche dans ce domaine, en comparant les pays à revenu faible et élevé. (who.int)
Years1
York NR, de la Morena MT. 50 years ago in the journal of pediatrics: a decade with agammaglobulinemia. (medscape.com)