Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | |
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Other names | Agammaglobulinemia, microcephaly, and severe dermatitis |
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Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is caused by profound B-cell depletion with normal T-cell numbers. [1] The condition was first identified in a 2006 report. [2] [3]
Features of this condition include: [1]
Distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy have also been reported.
This condition is known to be genetic, but the gene(s) responsible are yet to be identified.
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | |
---|---|
Other names | Agammaglobulinemia, microcephaly, and severe dermatitis |
![]() |
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is caused by profound B-cell depletion with normal T-cell numbers. [1] The condition was first identified in a 2006 report. [2] [3]
Features of this condition include: [1]
Distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy have also been reported.
This condition is known to be genetic, but the gene(s) responsible are yet to be identified.