[PAGID] FW: ? Granulomatous Angiitis

[Notarangelo, Luigi]

Dear Dr. Vogler:

I agree with what has ben written by Drs. Sullivan and Rohr. I think "leaky/atypical" SCID should be ruled out. Enumerating naïve vs. memory T cells and analyzing T cell repertoire diversity would help. We have just submitted a paper showing that immunoglobulins in patients with leaky SCID often contain autoantibodies, and your patient had AIHA. I would be happy to assist with further investigations in that sense, after you have proceeded as suggested by Dr Rohr (to distinguish between defects in DNA repair vs. RAG defects). It would be important also to characterize more in detail the B cell compartment by performing flow cytometry studies as suggested in the article by (Warnatz and Schlesier, 2008).
Could you give some more details about the inflitrate that was associated with granulomatous lesions? Was it characterized for the presence of T cells, eosinophils, neutrophils, etc? Is there any evidence of parental consanguinity?

Best regards


Luigi


Luigi D. Notarangelo, M.D.
Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Division of Immunology, Children's Hospital
Professor of Pediatrics and Pathology, Harvard Medical School
Karp Building, 9th floor, Rm 09210
1 Blackfan Circle
Boston, MA 02115
USA

(tel) (617)-919-2276
(fax) (617)-730-0709








On 9/29/09 5:53 PM, "Vogler, Larry B" <lvogler at emory.edu> wrote:

[cid:3337155451_984251]


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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