[CIS PIDD] [cis-pidd] FW: Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

[Hauck, Fabian Dr.med.]

Dear Juan,

I would like as well to offer our help in terms of TREC/KREC-Screening and extended phenotypical and functional diagnostics. Additionally, we have a next generation sequencing facility in Munich (and you will not find this in Freiburg). If you can not find someone in Latinamerica  -and there are some good LADIS centers around- we could arrange for blood shipping.
Just keep me informed,

Best wishes, Fabian

Fabian Hauck, MD, PhD
Consultant Pediatrician
Pediatric Hematology, Oncology, Stem cell transplantation, Immunology
Head of Immunological Diagnostics Laboratory
Dr von Hauner University Children's Hospital
Lindwurmstraße 4
80337 Munich, Germany
Tel: +49 (0)89 5160 7944
Fax: +49 (0)89 5160 7942
fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>

Von: Juan Carlos Aldave Becerra [mailto:jucapul_84 at hotmail.com]
Gesendet: Mittwoch, 26. März 2014 06:42
An: CIS-PIDD
Betreff: RE: [cis-pidd] FW: Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

Dear professors,

Thank you for your kind commentaries and suggestions.

Unfortunately most of the suggested tests (lymphoproliferation test, TRECs, KRECs, radiosensitivity analysis, FISH or CGH array) are not currently available in any Peruvian hospital or laboratory. Dr. Speckman, I would really appreciate your offered help.

I will look for the CD45RO/RA analysis in T cells, and for the exact cephalic perimeter.

The girl received BCG and tolerated it well.
She has had excellent response to IVIG, diarrhea has gone and general status has improved.
However, I agree with Dr. Ochs that her disease does not seem purely due to antibody deficiency.

I will keep you updated.
Sincerely,
Juan

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Hospital Nacional Edgardo Rebagliati Martins
Lima, Peru

________________________________
Date: Tue, 25 Mar 2014 09:00:28 +0100
From: carsten.speckmann at uniklinik-freiburg.de<mailto:carsten.speckmann at uniklinik-freiburg.de>
To: cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>
Subject: Re: [cis-pidd] FW: Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

I agree with Fabian - the pictures ("bird like") and B low phenotype suggest a radiosensitive disease. Is the child microcephalic?
Did you look for microdeletions (FISH or CGH array?)
In addition to the investigations suggested by Fabian: did you look for T cell proliferation?
Is the original newborn screening card available - you could check for TREC/KREC levels (you might also consider doing this from a fresh sample).
Let me know if we can help with this.

Kind regards, CS

Dr. med. Carsten Speckmann

Funktionsoberarzt/Consultant Immunologist

Zentrum fuer Kinderheilkunde und Jugendmedizin

Centrum fuer Chronische Immundefizienz - CCI

Universitaet Freiburg

Mathildenstr. 1

79106 Freiburg

Germany



phone: +49 (0)761-270 43010

mail: carsten.speckmann at uniklinik-freiburg.de<mailto:carsten.speckmann at uniklinik-freiburg.de>

web: www.cci.uniklinik-freiburg.de<http://www.cci.uniklinik-freiburg.de>



Am 25.03.14 08:25, schrieb Fabian Hauck:
Dear Juan Carlos Aldave Becerra,
You could check for radiosensitivity, e.g. found in Ligase-4-deficiency, and analyse CD45RA/R0 in T cells.
Best regards,
Fabian Hauck
Hauner Children Hospital
Munich, GermanY

Von meinem iPhone gesendet

Am 25.03.2014 um 02:33 schrieb Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com<mailto:jucapul_84 at hotmail.com>>:
Dear professors,

I would appreciate your thoughtful insights regarding the case of a 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies. I describe below the case report and attach some photographs with the guardian's consent.

Sincerely,

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Hospital Nacional Edgardo Rebagliati Martins
Lima, Peru


CASE REPORT

Girl, 4.5 months of age
Date of birth: October 28th 2013

FAMILY HISTORY:
-       No family members with suspicion of PID.
-       Healthy 7-yr-old half-sister (some mother).
-       No consanguinity.

PERSONAL HISTORY:
-       Weight at birth=2530 g; gestational age=40 weeks
-       No adverse reaction to BCG.
-       Current weight=2714 g (at 3 months old her weight was 3200 g)

CURRENT DISEASE:
- Peculiar facies (please see the attached photographs).
- Since 15 days of life: recurrent diarrhea causing severe perianal erythema; diarrhea has improved with broad-spectrum antibiotics, fluconazole and IVIG.
- 1 month old: admitted to the hospital due to cough, breathlessness and cyanosis → diagnosis: bronchiolitis, congenital cardiac defects (interauricular communication, persistent ductus arteriosus); required 2 days of intensive unit care; digoxin and captopril were initiated.
- 3.5 months old: admitted to the hospital due to pneumonia, improved with broad-spectrum antibiotics.
- 4.5 months old: diagnosis of agammaglobulinemia (IgG=0, IgA=0, IgM=4 mg/dL, nearly absent B lymphocytes) → initiation of IVIG (March 7th 2013).
- No thrush.

WORK UP:
March 6th, 2014:
-       IgG=0, IgA=0, IgM=4 mg/dL, IgE<1 IU/mL
-       Hb=13.2 g/dL; platelets=75,000; WBC=6,650; neutrophils=3,990; lymphocytes=1,663; monocytes=200; eosinophils=400, basophils=0/mm3
-       Serum glucose, urea and creatinine: within normal limits.
-       C-reactive protein: 0.70 mg/dL
-       Urinalysis: proteinuria 2+, leukocytes 5-8/field, red blood cells 2-4/field
-       Stool analysis: presence of fat, no parasites
-       Thyroid tests: free T3=3.53 pg/mL; free T4=2.040 ng/dL; TSH=0.012 uUI/mL
-       HIV: negative
-       VDRL: negative
-       Blood cultures: negative
-       Karyotype: 46 XX
March 12th, 2014 (after receiving IVIG 0.8 g/kg):
-       Total lymphocytes=2010; CD3+ cells=1518 (75.5%); CD4+ cells=1079 (53.7%); CD8+ cells=425 (21.2%); CD19+ cells: 4 (0.18%); CD56+ cells: 474/mm3 (23.6%).
-       IgG=560, IgA=0, IgM=11 mg/dL
-       Complement C3=66; C4=14.

DIAGNOSIS:
-       Primary immunodeficiency:
•       Predominantly antibody PI?
•       Combined PI?

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