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*  CD79B
It is associated with agammaglobulinemia-6. The B lymphocyte antigen receptor is a multimeric complex that includes the antigen ...
*  Primary immunodeficiency
Absent B cells with a resultant severe reduction of all types of antibody: X-linked agammaglobulinemia (btk deficiency, or ... Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with ...
*  X-linked agammaglobulinemia
As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the white blood cell ... X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight ... X-Linked Agammaglobulinemia Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the ... Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder Hypogammaglobulinemia (CVID), and their clinical ...
*  Ogden Bruton
This type of agammaglobulinemia is now called Bruton's syndrome or X-linked agammaglobulinemia, which was later found by others ... Terry Chin, Emedicine article on Bruton Agammaglobulinemia Bruton OC (1952). "Agammaglobulinemia". Pediatrics. 9 (6): 722-8. ... A decade with agammaglobulinemia. J Pediatr. 1962 May;60:672-6 Andrews BF, Bruton OC, De Baare L. Serum amino acid nitrogen in ... Agammaglobulinemia. Pediatrics 1952 Jun:9(6):722-8 Moseley RW, Bruton OC. Hemophilia in children: with a suggestion for ...
*  List of OMIM disorder codes
BLNK Agammaglobulinemia 5; 613506; LRRC8A Agammaglobulinemia and isolated hormone deficiency; 307200; BTK Agammaglobulinemia, ... FGB Agammaglobulinemia 1; 601495; IGHM Agammaglobulinemia 2; 613500; IGLL1 Agammaglobulinemia 4; 613502; ...
*  Immune disorder
X-linked agammaglobulinemia (XLA; also known as Bruton type agammaglobulinemia): characterized by a deficiency in tyrosine ...
*  Hypogammaglobulinemia
"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked ... Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias, but the distinction ... "agammaglobulinemia" at Dorland's Medical Dictionary "Dysgammaglobulinemia" at Dorland's Medical Dictionary " ... agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent. ...
*  CD79A
It is associated with agammaglobulinemia-3. The mouse CD79A gene, then called mb-1, was cloned in the late 1980s, followed by ... gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia". American Journal of Medical Genetics. 108 (4): ... in CD79A predicted to result in loss of the transmembrane region and a truncated or absent protein display agammaglobulinemia ...
*  IGLL1
Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or ... 1998). "Mutations in the Human λ5/14.1 Gene Result in B Cell Deficiency and Agammaglobulinemia". J. Exp. Med. 187 (1): 71-7. ... 2000). "Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage ... IGLL1 has also recently been designated CD179B (cluster of differentiation 179B). It is associated with agammaglobulinemia-2. ...
*  IGHM
It is associated with agammaglobulinemia-1. "Human PubMed Reference:". Friedlander RM, Nussenzweig MC, Leder P (Sep 1990). " ...
*  Jordan Wayne Lee
Lee was diagnosed with X-linked agammaglobulinemia before birth. This is a rare hereditary immune deficiency causing his body ...
*  Serum protein electrophoresis
It is found in patients with X-linked agammaglobulinemia. IgA deficiency occurs in 1:500 of the population, as is suggested by ...
*  Fred Rosen (physician)
He also worked on X-linked agammaglobulinaemia.. ...
*  Non-receptor tyrosine kinase
Mutations in the Btk gene are responsible for X-linked agammaglobulinemia, a disease characterized by the lack of mature B- ... "Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease". Proc. Natl. Acad. Sci. U.S.A. 91 (26 ... "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279-90. doi: ...
*  LRRC8C
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. "Entrez Gene: LRRC8A ... Sawada, A; Takihara, Y; Kim, JY (December 2003). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in ... 2004). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". J. Clin. Invest. 112 (11): 1707-13 ...
*  LRRC8E
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. Specifically for ... "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". The Journal of Clinical Investigation. 112 ...
*  X-linked recessive inheritance
X-linked agammaglobulinemia (XLA), which affects the body's ability to fight infection. XLA patients do not generate mature B ... ISBN 1-84184-120-X. "X-linked Agammaglobulinemia: Immunodeficiency Disorders: Merck Manual Professional". Retrieved 2008-03-01 ...
*  Bruton's tyrosine kinase
X-Linked Agammaglobulinemia Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the ... GeneReviews/NCBI/NIH/UW entry on X-Linked or Brunton's Agammaglobulinemia UMich Orientation of Proteins in Membranes protein/ ... Mutations in the BTK gene are implicated in the primary immunodeficiency disease X-linked agammaglobulinemia (Bruton's ... agammaglobulinemia); sometimes abbreviated to XLA. Patients with XLA have normal pre-B cell populations in their bone marrow ...
*  Owen Witte
January 29, 1993). "Deficient expression of a B-cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. ... causes the onset of X-linked agammaglobulinemia. This finding influenced the development of targeted drugs like Ibrutinib to ...
*  Diagnosis of HIV/AIDS
Antibody tests may also yield false negative results in patients with X-linked agammaglobulinemia; other diagnostic tests ...
*  HNRPH2
1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. ... This gene is thought to be involved in Fabry disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in ... 1993). "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279- ...
*  GNG2
"G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase". J. Biol. ...
*  Nijmegen breakage syndrome
There is no treatment for NBS, however in those with agammaglobulinemia, intravenous immunoglobulin may be started. ...
*  Hyper IgM syndrome
X-linked agammaglobulinemia Common variable immunodeficiency CVID) "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, ...
*  Leonard Apt
He was the first to report on a case of an immune system disorder known as agammaglobulinemia. The Apt test is performed when a ...