[CIS PIDD] [MARKETING][cis-pidd] CD4 lymphopenia and low NK cells with modest hypogam

Fri Oct 23 00:09:12 EDT 2015

Hi Ben,

Low CD4 and NK counts are rather common at least on this side of Atlantic in our CVID cohort (n=107).

His Ig levels and high IgE and normal anti-PnP together with autoimmune features make me think of milder than CVID type of PAD or late onset CID.

To me he sounds like idiopathic LOCID/CVID in the making, even monocyte levels are normal together w B levels, thus GATA2 seems unlikely.

Due to the lack of serious infectious complications and (still?) normal anti-PnP responses I would only follow him up (but would indeed follow). Since CD4s are that low I personally would consider prophylaxis.

Since Ehrilichia/Anaplasma has in the literature caused something similar, I would still check that.

At this point I would not personally pursue genetic testing, but if specifically naive CD4s were low, I would think again.
(We however have WESed about 3-4 LOCIDs and about 8-9 ICLs wo any diagnostic findings.)

Would others do differently? ATB,

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Chief, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 22.10.2015 kello 23.05:

Dear all,

I would appreciate your thoughts on the following case:

62 yo caucasian male with deramatitis, alopecia, mild thrombocytopenia, CD4 lymphopenia, low NK cells, and modest hypogam (IgG 500-600, with low IgA and IgM)

Clinical History: 2yr history of an erythematous, pruritic dermatitis.  Initially appeared in groin and has generalized to lower extremities and his back.  Biopsies have shown subacute spongiotic dermatitis, negative for cutaneous T cell lymphoma or bullous disease.  Hypogam discovered incidentally (IgG 507, low subclasses 1,2, and 3).  Given 1g/kg IVIG x 1 to see if presumed autoimmune dermatitis would resolve.  No improvement in rash noted.  Two months ago,  the patient developed similar lesions on the scalp and developed alopecia.   Started on IVIG by another provider for mild hypogam and presumed CVID.   History of treatment with oral Prednisone in May 2014, then steroid injections into his buttocks in May 2015, and steroid injections in the scalp in July 2015.  He takes testosterone gel topically and rarely uses steroid topical creams for his rash.  No history concerning for connective tissue disorders.

PMHx: History of sinus infections 1-2x/yr and easily catches viral URI’s.  No history of pneumonia.   Remote history of a prolonged staphylococcal infection of the hand after skin break that took 6 months to resolve.  No other significant infectious history.

ROS:  diarrhea 2-3x/week, abdominal pain, easy bruising (mild thrombocytopenia), history of axillary adenopathy, neck pain (hx of degernative disc disease C3-C5)

Family History:  The patient's older sister had a history of recurrent sinus infections. This sister's daughter also has a history of frequent sinus infections and has been hospitalized on multiple occasions for her sinus infections.

Exam:  erythematous lesions on the lower extremities, alopecia

Labs:
01/14/2015:  IgG 507; low IgG subclass 1, 2, and 3.
03/25/2015:  IgG 909, IgA 30, IgM less than 11 (post gamma globulin infusion x1  in February of 2015).
04/14/2015:  IgG 686, IgG3 levels were low.
06/08/2015:  IgG 541.
08/20/2015:  Pneumococcal titers 20 of 23 serotypes were greater than 1.3 (this was four weeks post immunization with Pneumovax).
The patient's platelet counts have ranged from 120 to 140. Smear showed normal platelet morphology.
History of negative ANA.
History of negative antiplatelet antibodies.
9/17/2015: normal CH 50
9/17/2015: IgG 640 (on Ig replacement), IgA 37, IgM 15
The patient has a normal serum albumin, a normal serum protein electrophoresis, and an unremarkable urinalysis.
Elevated IgE – 215
Serum tryptase - 12
The patient has a normal serum albumin, a normal serum protein electrophoresis, and an unremarkable urinalysis.
CBC is notable for lymphopenia with ALC ranging between 350 and 540. Monocytes normal.

Flow cytometry:
CD45, Lymphocytes 350
%CD3 - 66 (abs 228)
%CD19 - 24 (abs 83)
%CD16+CD56 - 8 (abs 28)
%CD4 – 19 (abs 64)
%CD8 – 39 (abs 135)
CD4:CD8 – 0.5

Normal percentages of recent thymic emigrants

Relative proportion of switched memory B cells in the total B cell pool is normal

Lymphocyte proliferation normal to mitogens (PHA and PWM) and antigen (candida and tetanus)

DHR normal

Previous biopsies:
06/20/2014:  Skin biopsy of the left thigh showed subacute spongiotic dermatitis.
04/29/2015:  Skin biopsy of the forehead showed verruca vulgaris with superimposed actinic keratosis.
05/20/2014:  Skin biopsy of the abdomen showed slight spongiotic dermatitis.
10/8/2015: EGD/colonoscopy – hyperplastic polyps in the sigmoid colon.

Previous bacterial cultures:
04/07/2015:  Wound culture from lesion on thigh positive for Staph aureus moderate and Acinetobacter rare.
05/20/2014:  Culture of the skin positive for rare Staphylococcus aureus.

Infectious studies:
HIV 1/2 serologies in the past have been negative.
hepatitis B and hepatitis C serologies were negative.
Lyme (serology), syphilis (serology), tuberculosis (quantiferon), and cocci (serology) were also all negative.

Imaging:
CT abdomen positive for left adrenal adenoma. He has also been noted to have small gallbladder polyps consistent with hyperplastic polyps.
CT chest shows no evidence of thymoma

My questions are the following:

-          Should this patient be on TMP/SMX given his CD4 counts?  Should we consider ppx for other infections (cryptococcus, MAI?)

-          Could his hypogam be caused by his low CD4 counts?

-          Does he need to be on IVIG given protective pneumococcal titers and IgG > 500?

-          What additional labs would  you send to rule out infectious causes of lymphopenia?  Our current list of proposed labs includes HIV-1 PCR and HIV-2 antibody screen, bacterial, fungal, and mycobacterial blood cultures, CMV PCR, EBV PCR, HHV-6 PCR, and parvovirus PCR, cryptococcal antigen?

-          How would you classify his disease? (likely idiopathic CD4 lymphopenia, CVID, LOCID)

-          What additional immune workup might you consider to further define his diagnosis?

Thanks,

Ben

Benjamin L. Wright, MD | Contract Physician | Allergy, Asthma & Clinical Immunology
Office Tel: 480.301.4284<tel:480.301.4284> | Fax: 480.301.9066<tel:480.301.9066>| Pager 127 or (79)1-5302 | wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>
Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259

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