[CIS PIDD] [cis-pidd] [cis-pidd]

Mon Dec 7 15:27:17 EST 2015

Hi, Dave.
HLA-DR expression for MHCII deficiency.
Joe Church

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Monday, December 07, 2015 11:47 AM
To: CIS-PIDD
Subject: Re:[cis-pidd] [cis-pidd]

Dear Colleagues,

I wanted to ask advice on the following patient with profoundly bad respiratory virus issues -

6 month old Caucasian female with a normal birth history, negative family history (no consanguinity), and normal physical exam.  She had a normal newborn screen presented at 4 months of age with respiratory failure secondary to Parainfluenza Type 1.  She also had seizures at the time.  A brain MR demonstrated  focal areas of hyperintensity on the diffusion-weighted imaging suggestive of multifocal small infarcts as well as central and peripheral atrophy.

Readmitted at 6 months of age with respiratory failure secondary to Human Metapneumovirus.  Imaging documented bilateral consolidations, mastoid effusions, and paranasal sinus disease.  A thymus was present.  She also had  Gemella (Streptococcus) morbillorum bacteremia.  We isolated Staph Epi and Candida Lusitaniae as well, but these were felt to be contaminant as she improved without therapy directed at the yeast.

She now remains on bactrim as she still has a significant CD4 lymphopenia and we have provided immunoglobulin replacement.  I was wondering if anyone has any suggestion on further diagnostic evaluation.  I do have mitogen testing which is pending as that had not been done.

Any thoughts would be welcomed...

Sincerely,

Dave

Dave Buchbinder, MD

CHOC Children's Hospital

4 months – during acute viral illness
Cytopenias (leukopenia, lymphopenia, and thrombocytopenia – no eosinophilia)
CD3 239 / uL  CD4 118 / uL  CD8 129 / uL  NK 20 / uL  CD19 8 / uL CD45RA 77 / uL CD45RO 34 / uL
IgA < 8 mg/dL   IgG 126 mg/dL   IgM 24 mg/dL
After 2 month vaccines --

Tetanus Ab 0.11 IU/mL (low)

Hib Ab 0.16 mg/L (low)

Pneumococcal titers Absent

ADA levels inconclusive (done after red cell transfusion)
Genetic testing:  SCID panel “negative” aside from on VUS in DCLRE1C.
6 months – during acute viral illness
Cytopenias (thrombocytopenia – no eosinophilia)
CD3 1046 / uL  CD4 305 / uL CD8 756 / uL NK 197 / uL CD19 45 / uL CD45RA  173 / uL CD45RO 141 / uL
IgA 9 mg/dL  IgG 121 mg/dL IgM 27 mg/dL IgE 5.4 kU/L
Afer 4 month vaccines given –

Tetanus Ab 0.43 IU/mL (protective)

Hib Ab  3.84 mg/L (protective)

Pneumococcal titers  --  6 serotypes with protective titers

CHOCLX-MGSM made the following annotations
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