Etiology
germline mutations of MBL2 in mannose-binding protein deficiency (MIM.154545)
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Monogenic disease
Articles
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mannose-binding protein deficiency
29 March 2006 -
hereditary angioedema type 3
11 December 2007HAE III
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CD3Z-associated primary T-cell immunodeficiency
16 March 2007CD3zeta-associated primary T-cell immunodeficiency
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hyper-IgD syndrome
5 February 2008HIDS
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RS-SCID
8 February 2006severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID), Athabaskan-type SCID (SCIDA)
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Frasier syndrome
8 April 2004Frasier disease
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Wolcott-Rallison syndrome
5 December 2005Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. Wolcott-Rallison syndrome is caused by mutation in the EIF2AK3 gene (MIM.604032), which encodes translation initiation factor 2-alpha kinase-3.
Synopsis
hepatic failure
abnormal pancreatic histology
anomalies of the central nervous system
anomalies of the cardio-respiratory system (...) -
Faisalabad histiocytosis
18 March 2006Definition: Faisalabad histiocytosis is a form of histiocytosis associated with sensorineural deafness and joint contractures.
Faisalabad histiocytosis (MIM.602782) was first described as a novel autosomal recessive form of histiocytosis in a highly consanguineous family originating from Pakistan.
Affected individuals were born with joint deformities, sensorineural hearing loss and subsequently developed a generalized lymphadenopathy and swellings in their eyelids that were shown to (...) -
Blackfan-Diamond anemia
26 November 2003congenital hypoblastic anemia of Blackfan-Diamond, congenital chronic aregenerative anemia
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hemophagocytic lymphohistiocytosis
22 February 2005FHLs, HPLH, HLH, familial erythrophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytoses
Definition: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.
Images
hepatic erythrophagocytosis in hemophagocytic lymphohistiocytosis
https://twitter.com/GIPathologyURMC/status/889533077118214144
See also
erythrophagocytosis
hepatic erythrophagocytosis
Hemophagocytic (...)