Here is James' story diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX).
Beginning of the story
James was born at full-term delivery to unrelated parents. After a month from born, James started to have diarrhea and hematochezia(blood in stool). He began to get supportive care from multiple university hospitals.
James’ first diagnosis at childhood
When James became ten years old, anal fistula and perianal abscess were observed. At 11 years old, Crohn’s disease was diagnosed by colonoscopy.
James’ diagnostic odyssey
After his first diagnosis, James has been first prescribed a steroid. However, his hematochezia and abdominal pain were not getting better.
It seemed that he got a little better when taking different medications, but every time other problems appeared.
As he grew up, new symptoms related to the respiratory system and immune system also appeared, hematochezia and abdominal pain not disappearing. As his conditions fluctuated, he was repeatedly hospitalized several times.
Revisiting the hospital
When he was 23 years old, James revisited the hospital and was hospitalized for his chest and neck pain. Esophageal candidiasis(Candida albicans infection of the esophagus) was confirmed after examination with esophagogastroduodenoscopy (endoscopy for esophagus, stomach, and duodenum), and Cytomegalovirus infection was confirmed using PCR.
Since both infections are rare in the general population and can be signs of lowered immunity, an immunologic workup was conducted. As a result, a low immunoglobulin level was observed.
Whole exome sequencing
With low immunoglobulin level, recurrent infection, and infantile Crohn’s disease, whole exome sequencing (WES) was conducted.
The result has found a pathogenic variant - NM014009.3 : c.1190G>A (p.Arg397Gln), hemizygous- on the _FOXP3 gene. The variant is not usually found in the general population, but identified in patients diagnosed with IPEX.
Therefore, James' final diagnosis was Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX).
To learn more about IPEX, read Rare Disease Series #21: IPEX.
Bone marrow transplantation can generally be considered as a curative treatment of IPEX. However, in the case of James’, since the symptoms of enteropathy persisted for a long time, the possibility of complications was high. Therefore, a careful approach was required.
After the diagnosis in 2020, Intravenous immunoglobulin (IVIG) replacement is being performed while checking the immunoglobulin G level every 4 weeks. The steroid used for the treatment of Crohn's disease is being tapered off. To manage the symptoms of IPEX, currently, rapamycin is being prepared for administration.
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX (MIM# 304790)