Results 91 to 100 of about 5,617 (179)
X‐linked agammaglobulinaemia and squamous lung cancer [PDF]
, 2001 A 32 yr-old nonsmoking male, diagnosed as having X‐linked agammaglobulinemia, presented with fever, cough with purulent sputum, a very intense back pain and a mass of 10 centimetres in lower left lobe.
M. Verdugo +5 more
core +1 more source
Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia
Case Reports in Pediatrics, 2013 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins.
Paola Ariganello +11 more
doaj +1 more source
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group [PDF]
, 2000 The diagnosis of X-linked agammaglobulinemia (XLA) is not always clearcut. Not all XLA conform to the classic phenotype and less than 50% of affected boys have a family history of immunodeficiency. Mutations in the gene for Bruton's tyrosine kinase (BTK)
Fiorini, M +14 more
core
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
BMC Neurology, 2019 Background X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious ...
Ya-Ni Zhang +7 more
doaj +1 more source
Recurrent pyogenic meningitis in a 17-year-old: A delayed presentation of X-linked agammaglobulinemia with growth hormone deficiency [PDF]
, 2011 We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. The workup for proportionate short stature revealed isolated growth hormone deficiency. This patient highlights the delayed presentation of
Karnik, Niteen D. +3 more
core
Iranian Journal of Allergy, Asthma and Immunology, 2007 Predominantly antibody deficiencies are a category of primary immunodeficiency diseases, which consist of several rare disorders such as common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA).
Maryam Nourizadeh +5 more
doaj
X-linked agammaglobulinemia – A rare but treatable disorder
Pediatric Hematology Oncology Journal, 2016 Dr. Rajesh Kunchelikar +3 more
doaj +1 more source
Congenital Agammaglobulinemia in a Female Child [PDF]
, 1995 We report a case of congenital agammaglobulinemia in a female child. This immunodeficiency usually affects males since it is a X-linked immunological disorder. Personal and family history of the little girl let us suspect that the genetic defect is not X-
Parolini, Ornella
core
A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase
The Turkish Journal of Pediatrics, 2006 X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the
Lütfiye Mesci +5 more
doaj