[CIS PIDD] [cis-pidd] STAT3 LOF and mycobacterial disease.

[CIS-PIDD]

Dear Colleagues

We are caring for a teenage girl with AD HIGE with a de novo heterozygous missense mutation in STAT3 (cDNA 1909 G>A; Val637Met).

She presented at age 3 with an orbital abscess which grew Mycobacterium fortuitum and was initially thought to have a possible defect in the IFNg pathway. Melia et al have reported NTM in damaged lung tissue in AD HIGE but extrapulmonary NTM in AD HIGE appears to be unusual (JACI 2009;124:617-8). We are aware of only 1 confirmed published report (S. Pacic, Acta Paediatrica 2002;91:1272-3 and Pacic S, personal communication) and 2 possible published cases in addition 2 confirmed unpublished cases including ours.

I’m writing to ask whether any of you are caring for genetically established AD HIGE patients who have had documentation of extrapulmonary NTM.

With many thanks

John Ziegler



Professor John B. Ziegler, AM
Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031
Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>

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