[CIS PIDD] [cis-pidd] hypergamm, elevated NK and no polysaccharide response

[CIS-PIDD]

I wanted to reach out on a 12 y/o M patient of mine with
hypergammaglobulinemia, bronchiectasis, recurrent pneumonia, lack of
polysaccharide response,elevated NK cells, CD4+ lymphopenia and congenital
anophthalmia.

Pt was adopted from Guatemala at 20 months and no family history is known.
No medical history before that except known congenital anophthalmia.

Mom states he has been sick since they adopted him and biggest complaint is
chronic productive wet cough.  He has had 3 CXR diagnosed pneumonias,
recurrent OM (not fixed by tubes).  Also had hearing loss (R conductive and
L mixed type).

Other pertinent history is at age 2.5 months he broke his pelvis from low
impact fall in playground.

CT chest showed scattered bronchiectasis throughout lungs.

Recent pulm workup grew MSSA from bronch, normal sweat test and had
negative PCD scraping (nasal nitric oxide not yet done).  Bronch normal
except purulent excretions that grew MSSA

IgG--2000 on two occasions
IgA-111
IgM-89
IgE-15

Flow (absolute numbers):
CD3+--997
CD4+--260
CD8+--630
CD19+--271
CD16/56+--1433
I have not done further characterization of the T or NK cells at this point.

pre-pneumovax titers (fully immunized with prevnar 7 previously)
0/23 protective (with all being undetectable levels)

Post pneumovax titers
1/23 protective (with 1 protective being 1.5 and 14/23 still being
undetectable, others barely detectable)

tetanus-0.35
diphtheria-0.11
Hib-0.2

Other workup
-chromosomal microarray negative
-normal TLR function (ARUP)
-lymphocyte proliferation to mitogens normal (when adjusted for CD4+
lymphopenia)
-normal DHR
-negative HIV
-normal CH50
-SPEP generalized polyclonal hypergammaglobulinemia
-SIFE polyclonal changes in gamma region
-B-cell subsets--moderate increase in transitional B-cells.  Relative
proportion of CD21+ b cells skewed to CD21-B-cells, 10-15% of CD19+CD21+
are CD21 dim/low

We are working on referring him to our genetics team, but with his
insurance any genetic testing will be a long journey.

As of last week we did start him on prophylactic antibiotics while we
figure his case out further.

I have a few questions for the group:
1.  despite his hypergamm, would you start IgG replacement?  If so, how
aggressive would you be with dosing?
2.  Any further workup people would suggest at this time?
3.  Any specific defects come to mind with his specific phenotype?

Thanks, I appreciate the input
Nick


-- 

Nicholas Hartog, MD

Allergy and Clinical Immunology

Assistant Professor--Michigan State University College of Human Medicine

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