[CIS PIDD] [cis-pidd] boy w/mycobacterial disease, heart block, cytopenias, dropping Ig's

[Arturo Borzutzky]

Hello everyone,

I would greatly appreciate your opinion on this boy with congenital heart
block, history of hemolytic anemia, ITP, disseminated mycobacterial disease
(unidentified acid fast bacilli), dropping immunoglobulins.

9 year-old boy born healthy. Parents are non-consanguineous, mother has
ulcerative colitis, Hashimoto's thyroiditis and mild psoriasis. Two
half-siblings are healthy. BCG-vaccinated at birth. No history of frequent
infections except recurrent bronchiolitis/asthma and non-atopic chronic
rhinitis (IgE<1). With history of complete heart block (diagnosed at 4
years of age, congenital?) with a pacemaker. About that time he had
coombs++ severe hemolytic anemia after receiving azythromycin for URI, but
had negative ID work-up. ANA neg, negative cardiolipin ab, normal C3-C4.
Self-resolved, Coombs later negativized.

At age 7 started with chronic ITP ranging 23-100k and was found to have
cardiolipin IgM 46, but this later turned negative. Negative antiplatelet
antibodies.

4 months ago (march 2015) he was admitted for fever, medullary aplasia and
hepatosplenomegaly. Bone marrow biopsy showed TB-type granulomatous
reaction and acid-fast bacilli. However despite multiple PCRs for TB and
mycobacterium complex in BM and other samples we could not identify the
bacterial species. Negative Quantiferon TB. At discharge CBC had improved
except platelets. He was treated with cipro-rifampin and ethambutol for 3
months. Readmitted for work-up. Follow-up CT shows slight decrease in
splenomegaly but with focal lesions and relatively large mediastinal
lymphnodes that were not present 3 mo ago, worsening platelet count (23K)
and dropping WBC (2.55) with no anemia.

IgG 639 (prior 725, 3 mo ago), IgA 23 (low; prior 29), IgM 27 (prior 125).
IgE always <1.
Lymphocyte populations: CD3 1947, CD4 1527, CD8 308, CD19 469, NK 83. All
normal, except slightly low NK and high CD4/8 ratio. Double negative T
cells are normal (0.9%) but has somewhat elevated double-positive T cells
(CD3+TCRab+CD4+CD8+) at 3.5%.
Other immune work-up is pending. All other ID work-up is negative. ANA
negative. vit B12: 512.

We're working on identifying the mycobacteria and on biopsying mediastinal
LN. We have given IVIG but have doubts on antimycobacterial drugs
(macrolides are not an option due to hemolytic anemia and rash on different
occasions).  Any thoughts on underlying PID and blind mycobacterial
treatment?

Thanks!

Arturo

*Dr. Arturo Borzutzky S.*
Profesor Asistente
Inmunología, Alergia y Reumatología Pediátrica
Departamento de Enfermedades Infecciosas e Inmunología Pediátrica
Escuela de Medicina, Pontificia Universidad Católica de Chile

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