[CIS-PAGID] Lymphoproliferative syndrome

[Dr. Carsten Speckmann]

XIAP deficiency (XLP2) can present with aspects of Crohn like disease (ulcers). Flow analysis of protein expression (and also SAP), NKT and apoptosis (increased) are helpful tests. What was the history of the other family members? x-linked? Regards, Carsten

--
Dr. Carsten Speckmann
Facharzt
Zentrum für Kinderheilkunde
Centrum für chronische Immundefizienz - CCI
Universität Freiburg 
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49(0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de



Am 02.12.2011 um 18:12 schrieb Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com>:


> Dear Doctors, I have been presented another case of suspected PID.

> 

> Boy, 12 years old

> No PID history in family.

> 

>  

> Patient history:

> -       No severe infections, no pneumonia, no failure to thrive

> 

> Main signs and symptoms: fever, aphthous ulcers, hepatosplenomegaly, lymphadenopathy, ascites

> Current history:

> -       15th October 2010: fever for 24 days, up to 39°C → was admitted to the hospital → mild leucopenia, mild hepatomegaly; hypertransaminasemia; no clear diagnosis after discharge → Then recurrent episodes of fever lasting 3-5 days, up to 38.5°C, until December 2010.

> 

> -       26th October 2011: aphthous stomatitis, fever up to 39.5°C, cough, no response to levofloxacin → was admitted to a local hospital → hepatosplenomegaly, lymphadenopathy, ascites → started anti-tuberculosis treatment because of an elevated ADA in the ascitic fluid → refered to our hospital. Fever persists.

> 

> -       22nd November 2011: PCR Epstein-Barr virus = 405 copies/mL → started IV acyclovir → 1 week later: 0 copies/mL (different lab)

> 

> 

> Physical exam:

> Active, helpful; several 2x1 cm aphthous ulcers in the mouth; several cervical and inguinal lymph nodes of 1 cm, painless; lungs sound clear; hepatosplenomegaly, signs of ascites.

>  

> WORK UP:

> Hematology:

> 

> WBC = 2990/µL

> 

> Neutrophils = 1050/µL

> 

> Lymphocytes = 650/µL

> 

> Platelets = 95000/µL

> 

> Hb = 11.9 g/dL

> 

> Metabolic:

> 

> CRP = 6.7

> 

> Albumin = 3.37 g/dL

> 

> Alkaline phosphatase = 742

> 

> AST = 742

> 

> ALT = 401

> 

> Ferritin = 1249 ng/mL

> 

> Proteinuria = 1062.7 mg/24 hours

> 

> B2-microglobulin = 3.92 (normal values: 0.67-2.14)

> 

> Adenosin deaminase in ascitis fluid = 77 (normal value <40)

> 

> Immunology:

> 

> IgG = 555 mg/dL

> 

> IgA = 154 mg/dL

> 

> IgM = 6 mg/dL

> 

> IgE = 326 IU/mL

> 

> CD3 lymphs = 529/µL

> 

> CD4 lymphs = 301/µL

> 

> CD8 lymphs = 207/µL

> 

> CD19 lymphs = 95/µL (11.35%)

> 

> EBNA-EBV IgG (+)

> 

> VCA-EBV IgG (+)

> 

> VCA-EBV IgM (-)

> 

> Microbiology:

> 

> PCR for M. tuberculosis (ascitic fluid): negative

> 

> PCR for Epstein-Barr virus (blood): 405 copies/mL; 1 week later: 0 copies/mL (different lab)

> 

> Pathology:

> 

> Bone marrow smear: reactive bone marrow, increase of histiocytes

> 

> Lymph node biopsy: sinusal histiocitosis, medullar congestion, erythrophagocytosis

> 

> Liver biopsy: necrosis in patches, portal inflammation, Kupffer cells hyperplasia, no granuloma

> 

> Bone marrow smear (07/11/2011): histioerythrophagocytosis

> 

> Imaging:

> 

> Chest-abdominal CT: hepatosplenomegaly; axilar, retroperitoneal, mediastinal and mesenteric adenopathies; severe ascites

> 

>   

> Suspected diagnosis:

> Lymphoproliferative syndrome

> Hemophagocytic lymphohistiocytosis

> Primary Immunodeficiency: XLP

> 

> 

> Please let me know your suggestions for approach and management.

> 

> Thank you very much,

> 

> Juan Carlos Aldave

> Allergy and Clinical Immunology

> Lima-Peru

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