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

[CIS-PIDD]

NFkB2 and 1 has been looked at?
Re: face dysmorphism and dental anomaly: We follow patients with 2 or 3 distinct monogenetic traits…
Best, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Von: <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Wednesday 14 June 2017 05:47
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: [cis-pidd] a patient question with endocrine and infection issues

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<mailto:yaejeankim at skku.edu>



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