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

Mon Sep 22 02:15:46 EDT 2014

Hola Nacho,
Coincido con lo sugerido.
Quería comentarte que tengo un FIS destinado a estudiar pacientes con sospecha de MSMD. Así que si te interesa podría realizar una evaluación completa de la vía en este paciente tuyo. Necesitaría 15ml de sangre fresca, que podrías enviar lunes o martes de la semana que viene. Si te interesa, te doy las especificaciones concretas de tubos, CI y dirección envió.
Un abrazo,

Laia Alsina

El 20/09/2014, a las 11:07, "Nacho Gonzalez" <nachgonzalez at gmail.com<mailto:nachgonzalez at gmail.com>> escribió:

Thanks everyone for your help. I´ll keep you updated.
Best regards,

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

2014-09-19 14:56 GMT+02:00 Dewton Vasconcelos <dmvascon at usp.br<mailto:dmvascon at usp.br>>:
Dear Nacho, good morning

I agree with the previous comments and I would add that we have seen a patient presenting IL12RB1 deficiency with a similar evolution and histopathological confusion with malignant histiocytosis. This patient was initially treated as LCH leading to dissemination of a BCG infection. After intensive anti-mycobacterial therapy he improved a lot but the parents interrupted the therapy after one year of rifampin, ethambutol and isoniazid and the infection relapsed. He was again biopsied and the pathology of his town misdiagnosed Hodgkin lymphoma this time. We asked for the piece and it was really ganglionar mycobacteriosis, starting another anti-mycobacterial therapy with rifampin, isoniazid, ethambutol and clarithromycin.

In the lesions of these patients there are sometimes extensive sinusal histiocytosis in the periphery of the granulomatous lesions that occasionally are confounded at the first sight.
Moreover, lymphnodes are difficult to evaluate and we have also seen confusion between "sarcoidosis" and Hodgkin lymphoma (the correct diagnosis in the case).

I would try to do a STAT4 phosphorylation assay stimulated by IL-12 and IFN-alpha and the expression of CD212 in T cell blasts (PHA+IL2 stimulated) to exclude CD212 deficiency.
Moreover, patients presenting with severe mycobacteriosis (and also severe deep mycoses) present lymphopenia, mainly of CD4 but also CD8, B and NK (see Antas PR et al, J Allergy Clin Immunol. 2006 Apr;117(4):916-23.)

All the best,

Dewton

Dewton de Moraes Vasconcelos, MD, PhD
Primary Immunodeficiencies Outpatient Unit ADEE3003
Lab. of Medical Investigation Unit 56
University of São Paulo School of Medicine

Nacho Gonzalez wrote:
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)
[cid:]
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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