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

Juan Carlos Aldave Becerra jucapul_84 at hotmail.com
Wed Mar 26 01:41:46 EDT 2014

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, MDAllergy and Clinical ImmunologyHospital Nacional Edgardo Rebagliati MartinsLima, 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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