[CIS PIDD] [cis-pidd] natural history for NEMO patients

[Wen-Yuan Hsieh]

Hi there,

I wanted to inquire about your experience with patients with NEMO disease, particularly the natural history of those patients who have NOT been transplanted.

We have a very challenging case and would like to gather as much information as possible.  The patient is a 12yo boy who was incidentally found to have a mutation in the IKK gamma gene when he underwent evaluation as a BMT donor for his older brother in 2006, who was diagnosed with NEMO based on the same mutation.  Our patient has never been hospitalized, no documented pneumonias, normal growth, no ectodermal dysplasia features, only recurrent sinus infections.  His immune function:  normal T and B cell numbers; normal T cell function (mitogens and antigens); normal TLR function (ARUP); normal vaccine responses to tetanus and diphteria (while off IVIG); decreased vaccine responses to pneumococcus; two abnormal NK cell function tests (2014, 2015) but one normal (2013), all sent to Cincinnati; normal IgG levels without IVIG and IgM in the 20s (normal range 50-100). He's heterozygous for a missense mutation R254Q (brother and mother have the same mutation).

We're evaluating the issue of transplant for this patient and best inform the patient's family about his likely natural history. We would like to know, in the non-transplanted NEMO patients you cared for:
1. Mutation
2. Disease phenotype
3. Immunological function tests
4. Reason you chose not to transplant your patient (in light of having matched donors)

Thank you for helping us care for this patient.

Elena


-- 
Elena (Wen-Yuan) Hsieh, MD
Instructor
Division of Allergy and Immunology
Stanford University School of Medicine
730 Welch Road (Pediatrics & Adults); Appt: 650-497-8841
801 Welch (Adults); Appt: 650-723-9281
Page: 650-723-6661


---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=2896248
or send a blank email to leave-2896248-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net