X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.
Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.
Paediatrics Department, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania, alexis_virgil@yahoo.com.
Alexis-Virgil
AV
Cochino
Ales
A
Janda
Barbora
B
Ravcukova
Vasilica
V
Plaiasu
Diana
D
Ochiana
Ioan
I
Gherghina
Tomas
T
Freiberger
D059786:Abnormal Karyotype; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D002648:Child; D002871:Chromosome Banding; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis; D020125:Mutation, Missense; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D016896:Treatment Outcome
D016756:Immunoglobulins, Intravenous; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase