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

[John Ziegler]

Don't forget CYBB. 


___________________________
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

On 19 Sep 2014, at 7:27 pm, "JOSE CARLOS RODRIGUEZ GALLEGO" <jrodgal at gobiernodecanarias.org> wrote:

Dear Nacho,
I agree with David Edgar, it could point towards MSMD, though the data about T cells could also suggest a primary T-cell deficiency. A complete analysis of the IL-12/IFN-g axis seems worthy before considering IFN-gamma or HSCT. We also had some patients with partial AR IFN-gR1 deficiency with NTM infections mimicking Langerhan's cells histiocytosis. 
Best wishes,
Carlos

Carlos Rodríguez-Gallego
Department of Immunology
Hospital Universitario de Gran Canaria Dr. Negrín.
Las Palmas de Gran Canaria
Spain
________________________________________
De: Nacho Gonzalez [nachgonzalez at gmail.com]
Enviado: viernes, 19 de septiembre de 2014 8:09
Para: CIS-PIDD
Asunto: [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

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