[PAGID] FW: ? Granulomatous Angiitis

[Jan Rohr]

Dear Dr. Vogler,

considering the low numbers of T- and B-cells I would suggest to  
investigate the possibility of a "leaky" SCID-variant, e.g. a defect  
in VDJ-recombination. In our experience the normal proliferative  
responses to PHA and Con A are not sufficient to rule out such a  
diagnosis.

As a first step, I would suggest to determine the numbers of naive T- 
cells (as a measure for thymic function) and gamma/delta-T cells  
(which have been described to be elevated ins some leaky SCID- 
patients) as well as having a look at serological responses to the  
routine childhood vaccinations. If these tests show abnormalities and  
the patient is microcephalic, then defects in DNA-liagse IV or  
Cernunnos would be high on my list - in case head circuference is  
normal I would rather look at RAG and Artemis.

Yours sincerely,

Jan Rohr




Dr. med. Jan Rohr
Zentrum für Kinderheilkunde und Jugendmedizin
Universitätsklinikum Freiburg
Mathildenstrasse 1
79106 Freiburg
Germany

Tel: 		+49-(0)761-270 4301
Fax: 	+49-(0)761-270 4599

E-mail: 	jan.rohr at uniklinik-freiburg.de
URL: 	http://www.uniklinik-freiburg.de/kinderklinik/live/forschung/ 
immunologie.html
URL: 	http://www.cci.uniklinik-freiburg.de/index.html

Am 29.09.2009 um 23:53 schrieb Vogler, Larry B:


> <image001.gif>

>

>

> I would very much appreciate any help that you may provide in the  

> diagnosis and management of this patient.

>

>

>

> The patient is a 10 year old East Indian girl with a normal birth.   

> She had some episodes of pharyngitis and gastroenteritis after age  

> 4 months and was hospitalized at age 10 months at Children’s  

> Healthcare of Atlanta-Egleston with well-confirmed adenoviral  

> hepatitis. At 19 months in 12/00 she had an episode of IgG auto- 

> immune hemolytic anemia. In 12/03 she had pneumonia and in 3/05  

> bronchitis and otitis media. She had an ear drum perforation in  

> 5/06 and was diagnosed with asthma in 4/08. In 11/08 she was noted  

> to have growth retardation and nail clubbing.  A chest CT showed  

> extensive bronchiectasis. In 1/09 she developed swelling of her  

> left elbow and left ankle associated with tender subcutaneous  

> nodules. An MRI showed lytic lesions in the distal humerus and  

> increased marrow signal in the proximal left radius.

>

> She has had high ESRs (118) and the following additional labs: WBC  

> 4.0: 69% segs, 17% lymphs, 7% monos, 7% eos, Hgb 9.3, platelets  

> 234. IgG 2280, IgA 60, IgM 92, IgE <2, CH50 51. CD4 lymphocytes 27%  

> (absolute ct.  295), CD8 9% (101), CD 19 14% (164), CD 16/56 37%  

> (420). Good responses to PHA and Con A in vitro, normal NK killing  

> in vitro and normal neutrophil oxidative burst.  ANCA was negative,  

> ANA + 1:160, ACE 20 (nl).  TB skin test negative, and negative  

> routine, fungal and AFB cultures and serologies for Brucella,  

> Bartonella, Histoplasma and HIV.

>

> She has been evaluated at MCG, CHOP and Emory. A biopsy of an elbow  

> soft tissue lesion on 5/11/09 was interpreted by our pathologist as  

> showing necrotizing angiocentric granulomatous inflammation with  

> granulomatous angiitis of small to medium-sized arterioles. A  

> recent bronchoscopy  showed signs of chronic bronchial inflammation  

> but no organisms. An abdominal ultrasound showed modest splenomgaly  

> with normal echogenicity and a brain MRI was normal.  A recent  

> ophthalmology exam revealed no uveitis or retinal lesions.   

> Attached are photos of the skin lesions and histopathology.

>

> We believe that she has necrotizing sarcoid granulomatosis as  

> described in the following Pub Med articles: PMID 17377369,  

> 12823717, 12784179, 12687600, 10232451, 8092646.  However, this is  

> not certain and we are reluctant to immunosuppress this young girl  

> with low lymphocyte numbers if other diagnoses are likely.

>

>

>

> Thanks for your thoughts.

>

> Larry

>

>

>

>

>

> Larry B. Vogler, M.D.

>

> Director, Division of Rheumatology and Immunology

>

> Department of Pediatrics

>

> Emory University

>

> 2015 Uppergate Drive

>

> Atlanta, GA 30322

>

> phone: 404-778-2400

>

> fax: 404-727-3757

>

>

>

>

>

>

>

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> <image001.gif><NSG-skin1.jpg><NSG- 

> skin3.jpg><09-07-08-1-3c.jpg><09-07-08-1-5c.jpg><09-07-08-1-12c.jpg>


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