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

[Juan Carlos Aldave Becerra]

Dear professors,Thank you for your help offered. I will write you in a separate email to coordinate for the possibility to ship samples from the patient.Sincerely,Juan

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



> Subject: Re: AW: [cis-pidd] FW: Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

> To: cis-pidd at lists.clinimmsoc.org

> From: stephan.ehl at uniklinik-freiburg.de

> Date: Wed, 26 Mar 2014 09:01:26 +0100

> 

> 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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>       <20140315 - photo I.jpg>

>       <20140315 - photo II.jpg>

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