background participants

Participant 225

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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 5, with developmental delay, immunodeficiency, and skin changes

Date of Report

Jun 11, 2024


The participant was born at 32 weeks and was not breathing (respiratory failure). The pregnancy was complicated by twins (monochorionic diamniotic) and substance abuse. Her twin passed away at birth due to multiple birth defects (including club foot, omphalocele, heart displacement). She spent 7 weeks in the NICU and underwent surgery to repair a difference in her GI track (pyloric stenosis). She had trouble swallowing, so an NJ (nasojejunal) tube was placed. At 4 years old, a G-tube (gastrostomy tube) was placed. At age 5, she mostly eats soft foods or thickened liquids.

The participant had multiple recurrent infections in infancy and early childhood, including many bacterial, viral, and fungal infections. She began treatment for immune deficiency (intravenous immunoglobin) at 4.5 years with has shown improvement.

The participant was slow to develop language and motor skills (developmental delay). At 2 years she began using fewer words and then stopped speaking (developmental regression). Around this time, her behavior changed, and she started having more tantrums, difficulty sleeping, and trouble focusing. At 5 years old, she can speak in short sentences. She has issues with balance and falls frequently. She is taller than expected for her age. However, her weight is proportional to her height (98th percentile for weight and height).

The skin on the bottom of her right foot is thickened and cracking (palmoplantar keratoderma). She also has eczema. Starting at 3, she has had many treatment-resistant warts.

Symptoms / Signs
  • Developmental delay and regression
  • Decreased immune response (Combined immunodeficiency, B&T lymphocytopenia)
  • Thickened skin on palms and soles (Palmoplantar Keratoderma)
  • Autistic behavior
  • Hair-pulling
  • Sleep abnormality
  • Decreased white blood cells (B & T lymphocytopenia)
  • Difficulty breathing during sleep (obstructive sleep apnea)
  • Difficulty swallowing (oral-pharyngeal dysphagia)
  • Thickened muscle connecting the stomach and intestines (pyloric stenosis)
  • Muscle weakness (axial hypotonia)
  • Overgrowth
  • Recurrent infections in infancy and early childhood
  • Tall Stature
Current Treatments
  • Azithromycin
  • Clonidine
  • Hydroxyzine
  • Imiquimod
  • Itraconazole
  • Intravenous immunoglobin (IVIG)
  • Vyvanse
Prior Treatments
  • Adderall
  • Guanfacine
  • Ketoconazole
  • Nystatin
  • Topical tretinoin
  • Voriconazole
Considered treatments
Previously Considered Diagnoses
  • Epidermodysplasia verruciformis
  • Fragile X syndrome
  • Microdeletion/duplication syndrome
  • Mitochondrial disease
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant and recessive

If this participant sounds like you or someone you know, please contact us!


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