[CIS PIDD] [cis-pidd] Hyper Ig E is susspected

CIS-PIDD cis-pidd at lists.clinimmsoc.org
Tue Jul 12 14:58:14 EDT 2016


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
wcordova at insn.gob.pe
facebook.com/wilmer.cordova.71
twitter: @wilmer_cordova

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