[CIS PIDD] [cis-pidd] Invasive Staphylococcal infections in First Nations

[CIS-PIDD]

Hi Tamar,

TIRAP, STAT1 GOF (should be a very mild phenotype then), some deficiencies in the IL17 pathway asf.

Excellent reviews and articles you can find from at least JL Casanova's group. I take there is now CMC?

I wonder if a hypomorphic SGD/CEBPE could cause this? Or hypothetically a mutation that would not cause asplenia but would cause a degree of hyposplenism? What does a blood smear look like?

For what it is worth?

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)
[X]

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 3.4.2017 kello 19.12:

IKKB deficiency was described in the Cree population, but they should have hypogammaglobulinemia and T cell defects.  Was there any TLR functional testing done?

James


James W. Verbsky M.D./Ph.D.
Associate Professor of Pediatrics and Microbiology
Medical Director, Clinical Immunology Research Laboratory
Medical Director, Clinical and Translational Research
Medical College of Wisconsin
Milwaukee, WI



From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Monday, April 03, 2017 9:51 AM
To: CIS-PIDD
Subject: [cis-pidd] Invasive Staphylococcal infections in First Nations


Hello everyone:



I would be very grateful for help/input regarding further diagnostic workup/management:



I have seen quite a number of Indigenous (First Nations) patients in Canada with invasive Staph infections (e.g. meningitis, multifocal osteomyelitis, pneumonia with large effusions) - brief details of the cases are provided below. Basic screens for all of them have shown normal neutrophil number and oxidative bursts (DHR), normal CH50, normal immunoglobulin levels and specific antibody response to vaccines, normal lymphocyte enumeration. On one or two occasions IRAK4/MYDD88 sequencing has been sent (not for the cases below, but for other very similar cases), and has been normal. I have not looked at Th17 #. These patients seem to mount fevers and have elevated inflammatory markers (CRP, ESR).



Case 1:

-17 month old male (Ojibway/Oji-Cree background) admitted with massive exudative effusion with underlying lobar pneumonia, otorrhea. He presented with a low grade fever, and CRP elevated to >100. No organism isolated despite extensive testing (pleural fluid tested for viruses, aerobes, anaerobes, mycobacteria, legionella Antigen etc. also). He responded well to treatment with Vancomycin/Ceftriaxone.  He had a prior history of cardiopulmonary arrest at 19 days old, requiring chest compressions x 15 minutes - found at that time to have meningitis (CSF positive for MSSA and strep mitis).



Case 2:

-3 month old female Cree infant presented with MRSA meningitis with appropriate inflammatory response. No underlying eczema or obvious portals for invasive infection. She is now 6 months old without subsequent infection to date.



Case 3:

-4 month old female Inuit patient with multifocal osteomyelitis and blood culture positive for S. aureus infection at the time. Subsequent details of history are vague, however, her mother reported that she is starting to get 'bone pain' in her arm again. (I heard about this patient when I saw her younger brother, a 7 month old admitted with failure to thrive, thrush, empyema, and meningitis - presumed diagnosis is currently disseminated Tb - his extensive workup is in progress currently...).



Case 4:

-Previously healthy 16 month old of Cree background, admitted with persistent, very large E coli subdural empyemas for the last 3 months (despite 2 surgical evacuations). Investigations have not shown an underlying urinary tract anomaly.



The list goes on...



1. Has anyone noted similar findings in these populations?

2. Any suggestions for further workup? I am planning on genetic sequencing for the family in case 3, and also looking at the MSMD pathway.



Thank you very much,



Tamar Rubin







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