[CIS-PAGID] Peruvian patient with EBV associated lymphoproliferation

[Notarangelo, Luigi]

Dear Juan:

Please, add sCD25 which you can also send to Cincinnati (and also NK cell functional studies). I would also suggest that you ask them to stain slieds of the marrow for CD163, another very good marker of HLH.

Gigi


On 12/1/11 11:35 AM, "Juan Carlos Aldave Becerra" <jucapul_84 at hotmail.com> wrote:

Dear Dr. Notarangelo,

Thank you very much for your response, I have contacted with Cincinnati lab for help with the flow citometry studies that we don´t have available in Peru.

For the biochemical and functional screening for HLH, apart from ferritin and triglicerydes, what else should I request?

Juan


> From: Luigi.Notarangelo at childrens.harvard.edu

> To: pagid at list.clinimmsoc.org

> Date: Thu, 1 Dec 2011 16:30:51 +0000

> Subject: Re: [CIS-PAGID] Peruvian patient with EBV associated lymphoproliferation

>

> Dear Juan Carlos:

>

> I suggest to consider HLH in the differential diagnosis. This is way more common than ITK deficiency.

> Biochemical and functional screening for HLH should be done first, and I would also look at perforin and CD107 expression to get insights into possible gene defects.

>

>

> Luigi D. Notarangelo

> Professor of Pediatrics and Pathology, Harvard Medical School

> Jeffrey Modell Chair of Pediatric Immunology Research

> Division of Immunology, Children’s Hospital Boston

> Karp Research Building, Room 9210

> 1 Blackfan Circle

> Boston, MA 02115

>

> teL: +1-(617)-919-2276

> FAX: +1-(617)-730-0709

>

>

>

>

> On 12/1/11 11:26 AM, "Juan Carlos Aldave Becerra" <jucapul_84 at hotmail.com> wrote:

>

> Good morning dear Doctors, I was presented this case from Peru:

>

> Female patient

> 4 years old

>

> Parents are not blood relatives.

> No previous medical history before 4 years of age.

> Normal psychomotor development

>

> May 2011: First hospitalization for Probable Infection by Epstein Barr Virus (fever; cervical, mesenteric and mediastinal lymphadenopathy (4 mm); hepatosplenomegaly; hypergammaglobulinemia).

>

> Bone marrow smear:

> •         Lymphocytic marrow infiltration versus reactive lymphoproliferative syndrome (June 2011)

>

> Bone marrow biopsy

> •        90% cellularity, presence of all three series, 40% CD8 cytotoxic T lymphocytes of mature appearance (June 2011)

> Liver biopsy:

>

> •        Extramedullary hematopoiesis (June 2011)

>

> Lymph node biopsy:

> •        Paracortical hyperplasia with no evidence of malignancy  (June 2011)

>

>

>

> September 2011: Second hospitalization: sudden onset of fever, cough and respiratory distress, managed in ICU for septic shock with respiratory focus, needing oxygen and inotropic support; oliguria, anemia (received transfusion), hepatosplenomegaly.

>

> Laboratory: mild anemia, lymphocytosis, elevated liver enzymes, and hypergammaglobulinemia

> Leukocytes: 11.400 cells/mm3

> Lymphocytes: 8.430 cells/mm3

> Neutrophils: 1999 cells/mm3

> Hemoglobin: 10.1 g / L

> Platelets: 343 000 cel/mm3

> C reactive protein: 5.3

> Creatinine: 0.21 mg / dl

> ALT: 142 IU; AST: 127

> Alkaline phosphatase: 470 (normal up to 300)

> Albumin: 3.32 g / dl

> Total Protein: 9.14 g / dl

> Urinalysis: normal

> Haptoglobin: normal

> IgA: 217 mg / dl

> IgM: 369 mg / dl

> IgG: 2401 mg / dl

> IgE: 41.9 mg / dl

> EBV EBNA IgG: positive

> EBV EBNA IgM negative

> EBV VCA IgG positive

> Direct Coombs positive (1+)

> Fibrinogen: normal

> LDH 967 (high)

> Electrophoretic proteinogram: hyperproteinemia, polyclonal increase of gamma fraction

> Epstein Barr Virus Viral load (PCR): 1070 copies / ml

> Cytomegalovirus viral load <600 copies

> Bronchoscopy: thick secretions and fluffy whitish plaques

> TCR clonality study: negative

> Negative blood cultures

> Autoantibodies (ANA, ANCA, ASMA, Anti KLM1, antithyroid): negative

> Negative PPD

> Negative viral markers for hepatitis

>

>

> The patient has received IV acyclovir for 21 days; fluconazole for 10 days. Good evolution from the respiratory standpoint. No fever. Persistent hepatosplenomegaly (7 cm below the costal margin) and cervical microadenopathies.

>

> I have read about the PID that predispose to EBV infections and, because of the gender of the patient, I suspect of Itk deficiency. Please feel free to make me the suggestions that you have.

> Thank you very much,

>

> Juan Carlos Aldave

> Allergy and Clinical Immunology

> Lima-Peru

>

>

>

>