[CIS PIDD] [cis-pidd] Presumed PID, empty hands

Mon Apr 6 02:44:01 EDT 2015

What does the eczema look like? Is the patient able to sweat? %naive Ts lowish/decreasing over time?
-You might want to consider a Ca channelopathy (ORAI/STIM).

Early T-cell activation normal? B-cell differentiation? A block at transitional stage may point towards a defect in CARD11.

Generally I would suggest to understand the T/B compartment functionally a bit better - which would help to identify candidate genes/pathways.

BW Carsten
--
Sent from my phone - please excuse the brevity and possible typos

Dr. Carsten Speckmann
Pediatrician
Group Leader: Benign lymphoproliferative disorders
Pediatric Hematology and Oncology
and Center for Chronic Immunodeficiency
University of Freiburg
Germany
phone: +49 (0)761 270 43010
fax: +49 (0)761 270 45990
www.uniklinik-freiburg.de/cci/studien/alps.html

> Am 06.04.2015 um 00:59 schrieb Bodo Grimbacher <bodo.grimbacher at uniklinik-freiburg.de>:
> 
> How high is the IgE?
> Have you thought of Dock8 or STAT3 or other “HIES" cause ?
> NEMO?
> Best, Bodo
> ****************************************
> Univ.-Prof. Dr. med. B. Grimbacher
>  
> Scientific-Director
> CCI-Center for Chronic Immunodeficiency
> UNIVERSITÄTSKLINIKUM FREIBURG
> Tel.: 0761 270-77731  Fax: -77744
> Engesserstraße 4, 79108 Freiburg
> bodo.grimbacher at uniklinik-freiburg.de 
> www.uniklinik-freiburg.de/cci
> 
> Von: "Laham, Federico R." <Federico.Laham at orlandohealth.com>
> Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Datum: Tuesday 17 March 2015 20:30
> An: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Betreff: Presumed PID, empty hands
> 
> Trying to post this again, the server would not allow it last wk.
> ------------------
>  
> Dear colleagues, I would appreciate your diagnostic considerations regarding this 17 month old child with the following (remarkable) history:
>  
> -- 1 month of age.  Eczema
>  
> -- 5 months of age. GBS bacteremia, right otitis media, severe eczema, IgG "<300". Had atypical features of Kawasaki disease, including quite echobright coronaries, received IVIG.
> Parents stated cord fell off at 10 weeks
>  
> -- 8 months of age.  Skin HSV-1, axillary abscess with MRSA
> -- 9 months of age. Eczema herpeticum (SEVERE), tinea capitis
> -- 11 months of age. Worsening eczema herpeticum.  [lost to followup]
>  
> Now a 17 month old admitted 2 days ago with non specific eye swelling, a RUL/RML pneumonia and shifting atelectasis.
>  
> Workup so far:
> --------------
> - Negative newborn screen for SCID
> - HIV PCR neg
> - DHR normal at 9 months
> - LAD-1 markers (CD11a/b/c, CD18): normal expression at 9 months.
> Can't find pathologist review of neutrophils on a slide.
> - Quant Immunoglobulins at 11 months (6months after the 2g/kg dose for the Kawasaki disease)
>  IgA 182, IgG 426, IgM 18, IgD (not sure why sent) <0.7. No vaccine-specific Antibodies done due to the IVIG
> - Lymph profile at 11 months:
>  CD3 3144 (37%)
>  CD4 2043 (24%)
>  CD8 864 (10%)
>  4/8 ratio 2.4
>  NK 195 (2.2%)
> Few failed attempts to obtain proliferations to mitogens and antigens as outpatient
> Review of WBC counts usually between 15-43,000. No eosinophilia, thrombocytopenia, no warts, no herpesvirus issues. His dentition includes only the two upper canines, that are somewhat conical shaped. A sibling died from pneumonia/?SIDS many years ago. Family history of eczema, but no infections/immunodeficiencies, no bleeding problems.
> 
> On exam, he is well appearing, non toxic, with diffuse wheezing, RUL/RML infiltrates ?atelectasis,  mild leukocytosis and elevated CRP. My considerations:
>  
> 1. LAD-1 with abnormal function, normal expression
> 2. Rac2 deficiency associated neutrophil migration defect?
> 3. NK defect
> 4. WHIM/GATA2?
> 5. Would you check IFN pathway?
> 
> - What would you favor/suggest?
> - Do you know where to test neutrophil chemotaxis?
>  
> Thanks for your comments and suggestions.
>  
> Federico
>  
> Federico Laham, MD, MS, FAAP
> Medical Director, Infectious Diseases
> Arnold Palmer Hospital for Children
> 
> 60 W. Gore Street., MP 140
> Orlando, FL 32806
> Office: (321) 843-3436
> Fax: (321) 841-7361
> Clinic: (321) 841-7360
> E-mail: federico.laham at orlandohealth.com
> Web: www.arnoldpalmerhospital.com/kidsid/
> 
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