On this page, you will find information about a UDN participant. Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Male, age 14, with a weakened immune system (common variable immune deficiency), mitochondrial deficiency (complex I), delayed stomach emptying (gastroparesis), and multiple congenital anomalies.
Apr 12, 2022
The participant was born at 38 weeks after a complicated pregnancy involving preterm labor. There were no complications at the time of birth. At 8 weeks old, he was diagnosed with Shone Complex, a combination of several heart defects (coarctation of the aorta, bicuspid aortic valve, aortic valve stenosis, abnormal mitral valve). His heart abnormalities were later surgically repaired.
As a toddler, the participant was noticeably immunodeficient. He has been hospitalized numerous times for recurring bacterial and viral infections. He was also hospitalized for fevers with unknown origins, and had ear tubes placed to treat recurrent ear infections (otitis media).
At age 7, the participant was diagnosed with a brain abnormality (Arnold-Chiari type I). Two years later, he underwent a tethered cord release procedure. At age 9, he was diagnosed with bladder and urination issues caused by the nervous system (neurogenic bladder). He also has a history of weakened wall of larynx and bronchial tubes (laryngomalacia and bronchomalacia).
The participant continues to have fevers of unknown origin multiple times per year. He receives formula through his J tube, but TPN is his main source of nutrition.
Notably, the participant was previously diagnosed with 16p11.2 microduplication syndrome that was maternally inherited. He also was diagnosed with weakened connective tissue (Ehlers Danlos syndrome type 3) and mitochondrial deficiency (complex I).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
| Gene | Inheritance | Position (hg19) | Transcript | DNA Change | Protein |
|---|---|---|---|---|---|
| FANCA | Autosomal Recessive | chr16:g.89862376G>A | NM_000135.3 | c.944C>T | p.Pro315Leu |
| LTBP4 | Autosomal Recessive | chr19:g.41119932G>C | NM_001042544.1 | c.2869G>C | p.Ala957Pro |
| WDR27 | Unknown | chr6:g.170047864C>T & chr6:g.170070759G>T | NM_182552.5 | c.1657+5G>A & c.362C>A | N/A & p.Ser121Ter |
| ADK | Autosomal Recessive | chr10:g.764300001A>G | NM_006721.3 | c.938A>G | p.Asn313Ser |
| FANCL | Autosomal Recessive | chr2:g.58468412G>A | NM_001114636.1 | c.37C>T | p.Pro13Ser |
| ICOS | Autosomal Recessive | chr2:g.204807979T>C | NM_012092.4 | c.58+6384T>C | N/A |
| MTHFD1 | Autosomal Recessive | chr4:g.64877827C>T | NM_005956.3 | c.146C>T | p.Ser49Phe |
| RAG1 | Autosomal Recessive | chr11:g.36596970del | NM_000448.2 | c.2116delA | p.Arg706GlyfsTer44 |
| PTPRC | Autosomal Recessive | chr1:g.198668827A>G | NM_002838.4 | c.433A>G | p.Ile145Val |
If this participant sounds like you or someone you know, please contact us!