[CIS PIDD] [cis-pidd] Histiocytosis and persistant disseminated atypical mycobacteria

[Edgar, David]

Dear Luis
Your patient sounds very like a case we reported some time ago and I would remain concerned regarding the Type 1 cytokine pathway. It may be worth discussing potential further investigation of this case with my colleague Dr Kumararatne in Cambridge UK:  dsk22 at cam.ac.uk<mailto:dsk22 at cam.ac.uk>.
Kind Regards
David

Interferon-• receptor deficiency mimicking Langerhan’s Cell Histiocytosis (LCH). Journal of Pediatrics 2001;139(4):600-3


From: Nacho Gonzalez [mailto:nachgonzalez at gmail.com]
Sent: 19 September 2014 08:09
To: CIS-PIDD
Subject: [cis-pidd] Histiocytosis and persistant disseminated atypical mycobacteria

Dear colleagues,

I would like to hear any input regarding diagnosis and treatment for a 3 1/2  yo male with LCH and disseminated M. genavense infection.

At 6 mo of age weight < P3 & height P10. Multisystemic Langerhans histiocytosis (LCH)  treated with vinblastin, steroids and clofarabin (this drug from Nov 2012 to 22 june 2013, 8 courses) finished in April 2013. Maintenance chemo (MTX+MCP & steroids) stopped 8 months ago. LCH is considered as non-active disease after several reevaluations.

Disseminated atypical mycobacteria was diagnosed in Jan 2014. After 1 month under iv etambutol+levo+azithro treatment and 1 1/2  months po, fever relapsed and bone marrow was again full of atypical mycobacteria. Then we used iv linezolid, amikacin, ethambutol, azithromycin and levo. In June PCR revealed NTM was M. genavense. Since then, he is under iv levo + clarithromycin + ethambutol + rifampicin.
For the last 2 1/2 months fever subsided and night sweating dissapeared. However in the last 10 days he has daily fever and night sweating. Extensive infectious disease work up is negative.
He is TPN dependent because of chronic diarrhea, malnutrition and protein losing enteropathy (PLE has resolved lately). Two gut endoscopies revealed NTM within macrophages covering the lamina propria. Microbiologists cannot ensure they are not viable. All cultures (BM, gut) have been negative for NTM. Abdominal MRI (March 2013) suggested sclerosing mesenteritis. A trial of colchicine turned to be ineffective. Follow up ultrasounds show improvement of this.
In the past he had prolonged viral shedding with viral infections (but not clinically severe) after Paraflu, Flu, noro and rota infections in the last two years w or w/o chemo.
The patient had myelodisplasia in the last two BM samples. He has no cytopenias now.
IFNg/IL12 axis assessment is normal, with normal production of TNFa and IFNg after PBMC stimulation).
Lymph subsets: ALC 1300 - 45 00/uL CD3 (216 - 432 CD4, 1000 - 3000 CD8+. Almost all of them have memory phenotype. Decreased thymic output, CD31+ 10% ),  40 - 176 /uL CD19 with normal IgG levels. Decreased T cell proliferation with PHA, PMA/iono, antiCD3/CD28. (see follow-up immunological tests attached)
​​[X]
Genes sequenced: IFNgR1, RAG1/2,GATA2. All wt

Questions:
Is this PID primary or secondary ? Is there any way to know it?
How to balance benefit/risk ratio of sc IFNg, as LCH eventually may recurr ? Anyone has experience on this?
HSCT? When?

Any input will be welcomed.
Best regards,

Luis Ignacio Gonzalez-Granado
Immunodeficiencies Division
Hematology & Oncology Division
Pediatrics. Hospital 12 octubre. Madrid. Spain

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: david.edgar at belfasttrust.hscni.net<mailto:david.edgar at belfasttrust.hscni.net>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=205233462.dcdbc4cc34c5d5fc9098c22796ca8aeb&n=T&l=cis-pidd&o=45510382

________________________________

This message contains information from Belfast Health And Social Care Trust which may be privileged and confidential.
If you believe you are not the intended recipient any disclosure, distribution or use of the contents is prohibited.
If you have received this message in error please notify the sender immediately.

This email has been scanned for the presence of computer viruses.

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45510451
or send a blank email to leave-45510451-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20140919/ec28085a/attachment-0001.html>