X-linked agammaglobulinemia
In addition, to X-linked agammaglobulinemia a couple of autosomal recessive agammaglobulinemia gene mutations have been ... "OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1". "OMIM Entry - # 613500 - AGAMMAGLOBULINEMIA 2, ... 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 ...
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
"E%610483 - AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS". www.omim.org. Retrieved 2023-10-04. (Articles with short ... Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of ... "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. ... Features of this condition include: Agammaglobulinemia associated with severe developmental delay Microcephaly Craniosynostosis ...
Primary immunodeficiency
X-linked agammaglobulinemia was one of the first described primary immunodeficiencies, discovered by Ogden Bruton in 1952. ... Bruton OC (June 1952). "Agammaglobulinemia". Pediatrics. 9 (6): 722-728. doi:10.1542/peds.9.6.722. PMID 14929630. S2CID ... X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, DiGeorge syndrome, ataxia-telangiectasia, The treatment of primary ...
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 ...
CD79B
It is associated with agammaglobulinemia-6. The B lymphocyte antigen receptor is a multimeric complex that includes the antigen ...
Hypogammaglobulinemia
"agammaglobulinemia" at Dorland's Medical Dictionary "Dysgammaglobulinemia" at Dorland's Medical Dictionary Rose, Mark E.; Lang ... The following lists types of "agammaglobulinemia" catalogued in the OMIM. Hypogammaglobulinemia can have other types; see ... "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 ...
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. ...
Short-limb skeletal dysplasia with severe combined immunodeficiency
McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of ... "Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia ...
IGHM
It is associated with agammaglobulinemia-1. GRCh38: Ensembl release 89: ENSG00000211899 - Ensembl, May 2017 "Human PubMed ...
Immunoglobulin M
A mutation of the mu chain within IgM causes autosomal recessive agammaglobulinemia. The presence of IgM or, rarely, IgG is one ... "OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1". omim.org. Retrieved 2021-03-25. Gusdorf, L.; Lipsker ...
List of conditions with craniosynostosis
"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. ...
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 ...
Nijmegen breakage syndrome
... in those with agammaglobulinemia, intravenous immunoglobulin may be started. Prophylactic antibiotics are considered to prevent ...
Fred Rosen (physician)
He also worked on X-linked agammaglobulinaemia.[citation needed] He published over 300 papers on his research. Rosen was the ...
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. GRCh38: Ensembl ... 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 ...
LRRC8B
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 ...
LRRC8D
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. GRCh38: Ensembl ... "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". Archived from the ...
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 Bruton's+tyrosine+kinase at the U.S. National Library ... Bruton's agammaglobulinemia); sometimes abbreviated to XLA and selective IgM deficiency. Patients with XLA have normal pre-B ... Mutations in the BTK gene are implicated in the primary immunodeficiency disease X-linked agammaglobulinemia ( ...
LRRC8A
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. GRCh38: Ensembl ... "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". The Journal of Clinical Investigation. 112 ...
TIMM8A
Shaker M, Lorigiano TH, Vadlamudi A (June 2016). "Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and ...
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 ...
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. ...
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 ...