Clinical and mutational features of X-linked agammaglobulinemia in Mexico.
Clin Immunol
; 165: 38-44, 2016 Apr.
Article
in En
| MEDLINE
| ID: mdl-26960951
ABSTRACT
X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA. Four novel mutations were identified, one of these located in the previously reported mutation refractory SH3 domain. Clinical data support previous reports accounting for frequent respiratory, gastrointestinal tract infections and other symptoms such as the occurrence of reactive arthritis in 19.2% of the patients. An equal proportion of patients developed septic arthritis; missense mutations and mutations in SH1, SH2 and PH domains predominated in patients who developed arthritis.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mutation, Missense
/
Agammaglobulinemia
/
Genetic Diseases, X-Linked
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Country/Region as subject:
Mexico
Language:
En
Journal:
Clin Immunol
Journal subject:
ALERGIA E IMUNOLOGIA
Year:
2016
Document type:
Article
Affiliation country:
Mexico