[CIS PIDD] [cis-pidd] XLP on screening

[CIS-PIDD]

Dear All:


I was consulted on the following case and would appreciate your input:


A 3 year old male, with a family history of Adams-Olivier syndrome, underwent screening when he was a newborn by whole-genome sequencing in what appears to be an accredited diagnostic laboratory in the U.S. (I do not have further details... I think he was screened because of the potential neuro-developmental delays associated with this disorder; he did not have any of the associated malformations).


While he did not have any mutations in genes associated with the targeted syndrome, he was found to have a variant in XIAP (NM_001167; c.340C>T; p.Gln114*). This is obviously predicted to be deleterious.


He is asymptomatic, including no GI symptoms.

He has been treated with IVIG, as prophylaxis against EBV. He has no hypo/dys-gammaglobulinemia (prior to starting IVIG at around 2 years of age).


Given the broad presentations of XIAP deficiency, what recommendations would you make? Specifically, would you recommend going to HSCT ASAP?


Thanks,
Don






Donald C. Vinh, MD, FRCP(C)
Director, Infectious Disease Susceptibility Program
Lilian Wilkins Associate Professor, FRQS Clinician-Scientist
Dept of Medicine (Division of Infectious Diseases; Division of Allergy & Clinical Immunology)
Dept of Medical Microbiology; Dept of Human Genetics

McGill University Health Centre - Research Institute
1001 Decarie Blvd; Block E; Rm EM3-3230 (Mail Drop: EM3-3211)
Montreal, Quebec,  Canada H4A 3J1

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