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

[Dr. Carsten Speckmann]

  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 <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 28^th 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 

>> 7^th 2013).

>>

>> - No thrush.

>>

>> _WORK UP:_

>>

>> *March 6^th , 20**14:***

>>

>> - 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/mm^3

>>

>> - 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 **12**^th **, 20**14 (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/mm^3 (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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