[CIS PIDD] [cis-pidd] Patients with warts, CD4 lymphopenia and NK deficiency

Wed Jun 11 04:42:46 EDT 2014

Dear Jonathan,

Please consider radiosensitive disorders including DNA repair defects (NBS,
ATM), but also hypomorphic DNA recombination defects.

Beste Grüße

Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Centrum für Chronische Immundefizienz

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
Telefon: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de

Von:	Jonathan Tam <kiditamae at gmail.com>
An:	"CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>,
Datum:	11.06.2014 03:15
Betreff:	[cis-pidd] Patients with warts, CD4 lymphopenia and NK
            deficiency

(not sure if this posted the first time I tried)

I have a patient that recently came in to see me as a referral from
dermatology for numerous and recalcitrant warts.  He is a 12 y/o M with a
history of static encephalopathy, microcephaly, seizure disorder, GERD,
g-tube dependence.  Born FT c-section with no complications.  Unremarkable
family history of non-consanguineous parents from Sri Lanka.  He was noted
to be small and a G-tube was placed at 9 mo.  He had his first seizure  in
2006 and has been stable on Keppra.  He is followed closely by GI; noted to
have rare intermittent diarrhea, but generally normal stools.   He is also
followed closely by genetics and was last seen 3/6/13.  To this point none
of the test have revealed a genetic defect (negative microarrray).

His infection history is pretty unremarkable.  In terms of infection, he
has had one episode of acute otitis media.  He has one possible
pneumonia/bronchitis.  He had a UTI and an "eye infection".  In total he
has required antibiotics 3-4 times lifetime.  However, starting 2 years ago
he started to have warts.  He has not responded to any of the therapies
including candida injections x3.

Any thoughts would be appreciated.

----------------------------------------

%CD3 (Total T Cell): 76.2

Absolute CD3 (Total T Cell): (L) 1000 Cells/uL

%CD3/CD4 (T Cell Helper): (L) 9.8 %

Absolute CD4 (T Cell Helper): (L) 129 Cells/uL

CD4+CD25+CD127dim 12%

CD4+ CD45RA 10%

%CD3/CD8 (T Cell Cytotoxic): (H) 57.3 %

Absolute CD8 (T Cell Cytotoxic): 753 Cells/uL

%CD3+DR+: (H) 56 %

Mitogen blastogenesis to PHA, PWM and Con A all low.

Antigen blastogenesis to tetaus, candida, CMV, HSV, VZV and adeno all low.

%CD19 (B Cell): 20.1 %

Absolute CD19 (B Cell): 264 Cells/uL

CD19+IgD+CD27- 48%

CD19+IgD+CD27+ 13%

CD19+IgD-CD27+ 26%

CD3-CD16,56+ % (Natural Killer): (L) 1.9 %

Absolute NK ( Natural Killer): (L) 25 Cells/uL

NK cytotoxicity (low, only sent once):

                50:1        9%

                25:1        6%

                12:1        5%

                6:1          3%

Tetanus AB Titer: 1.25 I.U./mL

H Flu (PRP) Titer: (L) 0.23 mcg/mL

WBC: 7.68 K/uL (Neut  70.1 % Lymph  17.1 % Mono  10.4 % Eos 1.7 % Baso 0.3
%)

HGB: 13.5 g/dL

MCV: 94.0 fL

PLTE: (H) 456 K/uL

Sed Rate:  14 mm/hr

CRP:  0.9 mg/dL

IgG 958 mg/dL

IgM 37 mg/dL

IgA  56 mg/dL

IgE  <2 KU/L

CH50 365 Unit

VCA IgG Index: 0.22 (05/05/14)

VCA IgG Interp: Negative (05/05/14)

VCA IgM Index: 0.11 (05/05/14)

VCA IgM Interp: Negative (05/05/14)

EBNA Index: 0.65 (05/05/14)

EBNA Interp: Negative (05/05/14)

EBV Specimen: Blood (05/05/14)

EBV PCR: No Epstein Barr Virus nucleic acid detected (05/05/1

---------------------------------------------------

Jonathan Tam, MD

Assistant Professor of Pediatrics

Division of Clinical Immunology & Allergy

Children’s Hospital Los Angeles

4650 Sunset Blvd, MS#75

Los Angeles, CA 90027

jstam at chla.usc.edu

Phone: 323.361.2501

Fax: 323.361.1191

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