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

[stephan.ehl at uniklinik-freiburg.de]

Just to clarify Fabian's comment:

As many other centers, in Freiburg we do not offer WES as a certified
routine diagnostic procedure.
However, we offer NGS including WES free of charge in selected cases on the
basis of funded research projects on:

- CVID
- (S)CID
- IBD
- HLH and related
- ALPS and related
 and selected other clinical presentations.

Beste Grüße

Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Centrum für Chronische Immundefizienz

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
Telefon: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de





Von:	"Hauck, Fabian  Dr.med." <Fabian.Hauck at med.uni-muenchen.de>
An:	"CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>,
Datum:	26.03.2014 07:33
Betreff:	AW: [cis-pidd] FW: Peruvian 4-month-old girl with chronic
            diarrhea, agammaglobulinemia, cardiac defects and peculiar
            facies



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

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
To: 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
web: 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>:
      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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