[CIS PIDD] [cis-pidd] Asymptomatic patient with low ALC, hypogamm, CD4 count 17, and absent mitogen stim - management recommendations?

Thu Nov 23 04:17:33 EST 2017

CTLA4 deficiency may cause similar lab and nodules as well

Ayça Aslan Kıykım, MD
Marmara University
Pediatric Allergy and Immunology
Istanbul TURKEY

CIS-PIDD <cis-pidd at lists.clinimmsoc.org> şunları yazdı (23 Kas 2017 08:50):

> I would do seq, though the large majority of these remain idiopathic and astonishingly asymptomatic outside skin.
> 
> However, lung nodules I would investigate aggressively.
> 
> Also, remember always to check through "😉😉GATA2 eyeglasses"... DC levels, monocytes, GATA2 seq/RNA haploinsufficiency"? Family history and his story spells GATA2 to me..
> 
> Would love to know what the majority of these actually are... autoimmunity to lymphocytes/ somatic mutations/ what...
> 
> Mikko
> 
> Oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE)
> 
> 
> Head, 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> kirjoitti 23.11.2017 kello 3.52:
> 
>> Sounds like Moesin deficiency to me, as their symptomatology can be so varied. However, I think that you'll have to do some sequencing to arrive at an answer.
>> 
>> Anthony Hayward
>> 
>> -----Original Message-----
>> From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
>> Sent: Wednesday, November 22, 2017 10:52 AM
>> To: CIS-PIDD <cis-pidd at lyris.dundee.net>
>> Cc: Quinn, James M CIV USARMY MEDCOM BAMC (US) <james.m.quinn8.civ at mail.mil>
>> Subject: [cis-pidd] Asymptomatic patient with low ALC, hypogamm, CD4 count 17, and absent mitogen stim - management recommendations?
>> 
>> Greetings,
>> 
>> I have an interesting case that I would like to present to the group.  Any
>> feedback is welcome regarding management recommendations.
>> 
>> 61 yo Caucasian male with PMHx significant for allergic rhinitis, chronic
>> lymphopenia and hypogammaglobulinemia without recurrent infections presents
>> for follow-up. He was referred to our clinic for allergic rhinitis, at which
>> time chart review demonstrated chronic lymphopenia. He reported a family
>> history of "abnormal immune systems and rare cancers", but is unable to
>> elaborate and is estranged from his family. His children are all adopted.
>> 
>> PMHx: hypertension, basal and squamous cell carcinoma.
>> Surgical history: denies
>> Social history: ex-smoker (24 pack year history), monogamous with wife, no
>> STDs, denies EtOH/illicits, retired but is a prior welder
>> Medications: cetirizine, fluticasone proprionate nasal, montelukast,
>> lisinopril, finasteride, and alfuzosin. At his visit he was feeling well and
>> in his usual state of health.
>> 
>> Lab summary pertaining to lymphopenia:
>> ALC 400-700 since 2007
>> Depressed IgG (400-500 mg/dL) and IgM (30 mg/mL) noted 2011, 2012, and 2017
>> CDC with low CD3+, CD3+/CD4+, CD3+/CD8+ and percentage compensation of
>> CD3-CD19+ and CD3-/CD56+
>> Mitogen stim test without response mitogens or antigens (Con A, pokeweed,
>> tetanus, candida, and phytohemagglutinin)
>> Diptheria and tetanus titers protective
>> Pneumococcal 23/23 (100%) response to vaccine
>> Normal H/H and plts
>> TB (t-spot) test negative
>> HIV-1 viral load ultrasensitive 0 copies
>> Smear without pathology noted
>> CH50 elevated
>> Complete metabolic panel normal
>> CXR 2/2017 normal
>> HRCT chest 4/2017 nonspecific air trapping; groundglass opacities with
>> mosaic attenuation pattern; no bronchiectasis; multiple intrafissural LN
>> measuring up to 1.2cm; RLL 7 mm nodule
>> CT chest 10/2017 was without bronchiectasis but showed pulmonary nodules.
>> Spirometry normal
>> 
>> Referred to infection diseases who felt no underlying infection was causing
>> his lymphopenia; they did not recommend OI prophylaxis. Referred to Hem/Onc,
>> who did not recommend a bone marrow biopsy and did not offer follow-up. He
>> denies any infection since his last visit in our clinic. 
>> 
>> 
>> Recommendations we made:
>> 1- no live vaccines
>> 2- If requires blood products recommend irradiated, CMV negative
>> 3- follow-up of pulmonary nodules in 3 months with CT chest and pulmonary
>> referral was placed
>> 4- monitor clinically for further evaluation (given labs are already
>> abnormal, low utility in "screening routinely")
>> 
>> 
>> Are we missing something?  Would you consider anything else in your
>> evaluation/management/counseling plan?  Appreciate your time and thoughts..
>> 
>> 
>> Happy Thanksgiving,
>> 
>> REBECCA SCHAPIRA, DO
>> Capt, USAF, MC
>> Fellow, Allergy/Immunology, SAUSHEC
>> Assistant Professor of Medicine, USUHS
>> 
>> This document may contain information covered under the Privacy Act of 1974,
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>> 
>> 
>> 
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