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

Mon Apr 6 07:35:52 EDT 2015

We've had two infants with a rather similar presentation who turned out to have NEMO deficiency. Does mother have any birthmarks that could represent incontinentia pigmenti?

From: Bodo Grimbacher [mailto:bodo.grimbacher at uniklinik-freiburg.de]
Sent: Sunday, April 05, 2015 6:00 PM
To: CIS-PIDD
Subject: Re:[cis-pidd] Presumed PID, empty hands

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<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci<http://www.uniklinik-freiburg.de/cci>

Von: "Laham, Federico R." <Federico.Laham at orlandohealth.com<mailto:Federico.Laham at orlandohealth.com>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Tuesday 17 March 2015 20:30
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Presumed PID, empty hands

Trying to post this again, the server would not allow it last wk.

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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<mailto:federico.laham at orlandohealth.com>
Web: www.arnoldpalmerhospital.com/kidsid/<http://www.arnoldpalmerhospital.com/kidsid/>

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