172 results

... 30s secondary to a combination of nutrition-related immunodeficiency and respiratory ... accumulation of granular histiocytes. Genotype-Phenotype ...

... abnormalities accompany the nonsyndromic OCA types. OCA is common enough ... of variable severity Vici syndrome (defined as a neurodevelopmental disorder ...

... Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, ... of a CHH-AD spectrum disorder ...

... immunodeficiency ( ZAP70 -related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) ... diagnosis of ZAP70 -related CID is ...

... duplications of the entire GATA2 locus .[ 1 , 2 ] Variable ... with recurrent bacterial, viral, and fungal infections.[ 3 - ...

... Known Genetic Cause to Consider in the Differential Diagnosis of IPEX Syndrome View ... CTLA4 CTLA4 haploinsufficiency (autoimmune lymphoproliferative syndrome, type ...

... neurologic deficits, but its clinical presentation is quite variable. This ... and immunodeficiency but lack neurological deficits. They also may have ...

... dilated cardiomyopathy. Hematologic. Bone marrow failure is a common presenting ... Immunodeficiency of variable severity has been reported in DC/TBD. It ...

... HED, but tooth number and distribution are highly variable [ Lexner et al ... of the pulp chamber) is more common in molar teeth of individuals with HED than ...

... to name just a few sentinel signs and symptoms. Key biochemical features of HFI include ... findings in HFI include the following. Liver involvement ...