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

Sat Sep 20 05:06:19 EDT 2014

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>:

>  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*)
> 
> 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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