TY - JOUR
T1 - A syndrome of holoprosencephaly, recurrent infections, and monocytosis
AU - Jubinsky, Paul T.
AU - Shanske, Alan L.
AU - Pixley, Fiona J.
AU - Montagna, Cristina
AU - Short, Mary K.
PY - 2006/12/15
Y1 - 2006/12/15
N2 - We describe three siblings with holoprosencephaly, recurrent infections, and increased peripheral blood monocytes. These children were born to apparently healthy parents in a family with one unaffected child. Affected individuals had microcephaly, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by endocrine dysfunction, multiple respiratory, and skin infections. Laboratory studies showed normal karyotypes, normal lymphocyte function, and a peripheral blood monocytosis with markedly abnormal morphology. Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly.
AB - We describe three siblings with holoprosencephaly, recurrent infections, and increased peripheral blood monocytes. These children were born to apparently healthy parents in a family with one unaffected child. Affected individuals had microcephaly, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by endocrine dysfunction, multiple respiratory, and skin infections. Laboratory studies showed normal karyotypes, normal lymphocyte function, and a peripheral blood monocytosis with markedly abnormal morphology. Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly.
KW - Brain development
KW - Glia
KW - Immunodeficiency
KW - Innate immunity
KW - Macrophage
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U2 - 10.1002/ajmg.a.31542
DO - 10.1002/ajmg.a.31542
M3 - Article
C2 - 17103456
AN - SCOPUS:33845262019
SN - 1552-4825
VL - 140
SP - 2742
EP - 2748
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 24
ER -