X-linked agammaglobulinaemia. Mutation A1246G (R372G).
Barón Ruiz
I
I
Martín Mateos
M A
MA
Plaza Martín
A M
AM
Giner Muñoz
M T
MT
Piquer
M
M
Domínguez
O
O
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism* / Q000469:parasitology / Q000473:pathology; D001424:Bacterial Infections / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D018572:Disease-Free Survival; D005260:Female; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D005872:Giardia / Q000276:immunology* / Q000472:pathogenicity; D005873:Giardiasis / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D048788:Growth and Development / Q000235:genetics; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D007223:Infant; D008231:Lymphopenia; D008297:Male; D008487:Medical History Taking; D025202:Molecular Diagnostic Techniques; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
D016756:Immunoglobulins, Intravenous; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase