[CIS PIDD] [cis-pidd] a patient question with endocrine and infection issues

[CIS-PIDD]

Dear all,

I have a patient that I would like to ask your opinion.

*PI:* This is a 26 year old male with underlying endocrinology problems
(hypogonadism, adrenal insufficiency) which was noted during high school
period and at that time and he also started to have multiple recurrent
infections. He has had multiple ear infection hx (pus from the ears causing
deafness). Since 2013, he has had multiple episodes of recurrent cellulitis
on the extremities, chest wall and also several sepsis events (bacteremia,
candidemia).

He was evaluation for possible PID and showed marginally low IgG around
600s for twice in March and April of 2017 by adult infection physcian. He
was suspected for CVID and received IVIG but during the f/u, IgG was 832
and IVIG was held in May 2017. He is now in adult ICU d/t septic shock
caused by E. cloacae, K. pneumoniae, A. baumannii (3 bacteria at the same
time!) and there is a low chance that this is contamination.

Now I was consulted yesterday for the first time. His condition was
critical but stable, recovering from septic shock. When I saw him last
night, he was a tall, dysmorphic-looking man (mildly low set ears?
prognathism) with dental crowdedness with lots of teeth decay. Relatively
clean skin except the multiple scars of cellulitis.

*PMHX*:
No specific hx until late teenager when he did not develop any 2nd sexual
features. He was diagnosed with isolated hypgonadotropic hypogonadism and
started testosterone: Kallmann syndrome was ruled out by gene test.
He also had adrenal insufficiency.
Multiple ear infections
Chronic sinusitis
Multiple cellulitis, myositis
Multiple bacteremia (both gram positive and negative, many kinds of
bacteria) and one time candidemia
Hapatitis B carrier

*FHX:* Mom also has malocclusion, multiple ear infection and hearing loss.
SHX: He finished 2- year course college. He is a cook at a restaurant. No
serious mental retardation suspected

*LABs: *
Lymphocyte subset
CD3: 1824/uL
CD4: 1238
CD8: 544
CD19: 302
CD16+56+3-: 78

Immunoglobulin
IgG/A/M (mg/dL)
(2017.03.02): 686 (700-1600) /  85  (70-400) / 77  (40-230)
(2017.04.17): 657 /  86  / 171
(2017.05.24): 832
IgG subclasses (2017.05.24):  G1  413   G2  390   G3  70.4  G4  26.7
IgE 189 IU/mL (no eosinophilia)

DHR test normal.
CD11b, CD18 expression on granulocyte and monocyte was normal.

Will this be a patient with CVID background and autoimmune associated
hypopituitarism?
Any words on face dysmorphism and dental anomaly?

I would appreciate if you have any suggestion or further evaluation of this
patient.
Thank you.

YaeJean


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

Yae-Jean Kim, MD, PhD

Associate Professor
Division of Infectious Diseases and Immunodeficiency
Department of Pediatrics,
Samsung Medical Center,
Sungkyunkwan University School of Medicine,
81 Irwon-ro, Gangnam-gu,
Seoul, 06351
South Korea
yaejeankim at skku.edu

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4427918
or send a blank email to leave-4427918-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170614/14fe9e5f/attachment.html>