[CIS PIDD] [cis-pidd] Hyper Ig E is susspected
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Tue Jul 12 18:05:57 EDT 2016
Hi Wilmer- very interesting. Can you clarify - when you include "hyper-IgE syndrome" in the history, were there other symptoms associated with any of the hyper-IgE syndromes beyond high IgE and the pneumonia?
Joshua Milner, MD
Chief, Genetics and Pathogenesis of Allergy Section, LAD, NIAID
301-827-3662
Tinyurl.com/gpasmilner<http://tinyurl.com/gpasmilner>
On Jul 12, 2016, at 2:58 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
I was wondering if you could help me with this patient, whom Hyper Ig E is susspected. I wolud like to get the gene study in order to confirm this patology at my patient.
Thanks!
Age: 1 year 11 months
I. CURRENT ILLNESS
Time of disease: 1 year
Liver disease (fibrosis)
II. BACKGROUND: Recurrent pneumonias
• Pathological:
1. 20 days: Pneumonia + Infected dermatitis
2. 4 months: Pneumonia (7 days)
• 4 months and 20 days: Urinary tract infection, atopic dermatitis
3. 6 months : Pneumonia + acute diarrhea + CMV pneumonia (PCR: negative) + hyper IgE syndrome, hepatic cirrhosis ( hepatic biopsy: fibrosis grade II ) + failure to thrive
4. 1year 4 months : Hepatic cirrhosis, Hyper IgE syndrome, duodenal lymphangiectasy.
• Family: No contributory
III. PHYSICAL EXAMINATION:
Weight: 7,08 Kg Height: 68 cm
Abdomen: Globular, RHA (+), hepatic spam 12 cm., palpable spleen 13 cm.
IV. EVOLUTION:
Cytomegalovirus (serological clinical diagnosis) treated with valganciclovir. Immunoglobulin starts August 25, 2015.
V. TESTS AND PROCEDURES:
HEPATIC BIOPSY (07/22/15):
• Micronodular Cirrhosis. Chronic inflamation process and scarce eosinophils: +++ does not pass the limiting.
• DUDENITIS NODULAR BIOPSY: Duodenum: 10 EOSINOPHILS / 40X .Intestinal lymphangiectasy.
LAB
• Molecular study quantitative PCR for CMV : Negative (2 occasions).
• LKM -1 ANTIBODY : Negative
--
Atte
Wilmer Córdova
Inmunología Alergología
Instituto Nacional de Salud del Niño - Perú
http://www.isn.gob.pe<http://www.isn.gob.pe/>
wcordova at insn.gob.pe<mailto:wcordova at insn.gob.pe>
facebook.com/<http://facebook.com/>wilmer.cordova.71
twitter: @wilmer_cordova
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