[…] combined immunodeficiency in peripheral blood who have a history of severe early-onset infections, but trisomy 21, trisomy 18, and other microdeletion syndromes have been ruled out Assay Assay and technical information Invitae is a College of American Pathologists [invitae.com]

Clinical History Family history of consanguinity Sibling death in infancy and/or previous miscarriages in mother Family history of SCID Poor feeding and poor weight gain Chronic diarrhea Previous infections, especially pneumonia Physical Abnormal physical [odlarmed.com]

Clinical History Family history of consanguinity Sibling death in infancy and/or previous miscarriages in mother Family history of SCID Poor feeding and poor weight gain Chronic diarrhea Previous infections, especially pneumonia Physical Abnormal physical [odlarmed.com]

Cerebral palsy, spastic paresis, and ataxic diplegia have all been described. 24 25 Diagnosis is based on analysis of enzyme activity and measurement of intracellular dGTP concentrations. [adc.bmj.com]

The patient may present with the following: Failure to thrive, manifesting as decreased weight, height, and head circumference Dehydration from chronic diarrhea Eczema from GVHD, especially in Omenn syndrome Increased respiratory rate and effort and crepitations [odlarmed.com]

Cerebral palsy, spastic paresis, and ataxic diplegia have all been described. 24 25 Diagnosis is based on analysis of enzyme activity and measurement of intracellular dGTP concentrations. [adc.bmj.com]