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

[Prof. Dr. Stephan Ehl]

Capucine Picard (Paris) is currently collecting the European experience.

Beste Grüße 

Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Center for Chronic Immunodeficiency

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de





Am 10.06.15 02:44 schrieb "Wen-Yuan Hsieh" unter <whsieh at stanford.edu>:

>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
>
>
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