[CIS PIDD] [cis-pidd] VS: Help with suspected Hyper IgM

Tue Nov 1 10:15:37 EDT 2016

Hi Robbie

a)      I would want to know a B cell differential, whether the patient has any MZB-like/non-switched memory B cells and any switched memory B cells. At which stage does the class switch get disrupted?

b)      did the testing include intronic areas of AICDA, UNG, CD40L, CD40? An accredited lab?

c)       like Fabian mentioned, NEMO is a possibility, even with missing EDA, in this - sometimes at least - all B cells tend to be naive

d)      and like you tell PIK3CD, PIK3R1 remain possible. In these a T cell differential may give a clue

e)      has the family anything to suggest Lynch syndrome (?), its genes occasionally give a somewhat similar phenotype.

Yours

Mikko

Mikko Seppänen
Head
Hospital District of Helsinki and Uusimaa, Children's Hospital, Rare Disease Center
P.O.Box 280, 00029 HUS |Lastenlinnantie 2, Helsinki
Senior Consultant
Hospital District of Helsinki and Uusimaa, Inflammation Center, Adult Primary Immunodeficiency Outpatient Clinic
mikko.seppanen at hus.fi<mailto:mikko.seppanen at hus.fi>
+358 9 47180201| +358 50 4279606
faxi +358 9 47174703
www.hus.fi<http://www.hus.fi/>; www.harvinaissairaudet.fi<http://www.harvinaissairaudet.fi/>

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Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Lähetetty: 1. marraskuuta 2016 14:41
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: [cis-pidd] Help with suspected Hyper IgM

I wanted to check with the group to see if I could receive some guidance on the next steps of evaluation for a patient of ours:

The patient in question is a 7 year old with a 1 year history of recurrent bacterial pneumonia as well as one episode of Giardia gastroenteritis.   There is no other significant past medical history, no physical exam abnormalities, and no neurological impairment.

Immunoglobulins were drawn during a hospital admission for pneumonia: IgG: <17 mg/dl, IgA: < 2, IgM: 459.2 (171.2 on recheck 2 months later), IgE: <2

CBC was normal for age when he was not acutely ill with no eosinophilia.

Flow cytometry:
                CD3: 2896/mm3 (72%)
                CD4: 1368 (34%)
                CD8: 1327 (33%)
                CD19: 523 (13%)
                CD20:  523 (13%)

Vaccine responses (random) to diphtheria, tetanus, and pneumococcus (23-serotype) were absent (he was up to date).

CH50 was initially 0 and 11 CAE units on repeat

Testing was sent (through gene dx) for CD40L (normal), then CD40, AID/UNG were sent and were also normal.

Any suggestions on further evaluation?  We have discussed sending PI3-kinase testing, but I wasn't sure if there was anything else we should consider?

Thank you for the help!

Robbie

Robbie Pesek, MD
Medical Director, Asthma
Medical Director, Eosinophilic Gastrointestinal Disorders
Assistant Professor of Pediatrics
Division of Allergy and Immunology
University of Arkansas for Medical Sciences

Arkansas Children's Hospital
13 Children's Way, Slot 512-13
Little Rock, AR 72202
phone: 501-364-1060
fax: 501-364-3173

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