[CIS PIDD] [cis-pidd] patient question

Tue Jun 13 14:17:21 EDT 2017

Thanks Mike - I'll follow your suggestion.
Prescott

Sent from my iPhone

On Jun 13, 2017, at 1:10 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hello sir,

That sounds like a pretty strong case for a STAT3 gain of function mutation, between the clinical history and the position / details of the mutation.  If this is the case, then it opens up some new therapeutic options for him.

It may be worth contacting Megan Cooper or her colleagues regarding possible further testing.

Best regards,
Mike

Michael D. Keller, MD

Assistant Professor, Division of Allergy / Immunology

Center for Cancer and Immunology Research

Jeffrey Modell Diagnostic and Research Center for

Primary Immunodeficiency Disorders

Children's National Health System

111 Michigan Ave NW, M7745A

Washington, DC 20010

Clinic: 202.476.2140

Office: 202.476.5843

Fax: 202.476.2280

www.ChildrensNational.org<http://www.ChildrensNational.org>

________________________________
From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [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>]
Sent: Tuesday, June 13, 2017 1:03 PM
To: CIS-PIDD
Subject: [cis-pidd] patient question

Hi everyone:  I’d appreciate opinions on the 17 yo patient described below whom I have recently seen in clinic.  Immunoglobulins are shown below (on IgG replacement).  He is severely panlymphopenic.  The Invitae immunodeficiency panel returned with five VUS as shown below.  We are thinking that the VUS in STAT3 could be an activating mutation.

Thanks for your thoughts!
Prescott

T. Prescott Atkinson, MD PhD, Professor and Director
Division of Pediatric Allergy, Asthma & Immunology
University of Alabama at Birmingham
Tel: 205-638-6457
Fax: 205-975-7080
Cell: 205-999-7688

  IGG                       615 mg/dL                   588-1573
  IGA                       71 mg/dL                    46-287
  IGM                  [L]  38 mg/dL                    57-237
  IGE                       < 3.0 U/mL

<image002.png>

<image001.png>

FAMILY MEDICAL HISTORY

Patient has one full brother (14 yo) with autism spectrum disorder, high functioning. His mother is 35 yo and is healthy. She has two sons and two daughters through other relationships. One of the girls has eczema. His father is 37 yo and is healthy. The family history is otherwise significant for a paternal great grandfather with hypothyroid.

He is of Caucasian ancestry. Consanguinity was denied.

PAST MEDICAL HISTORY

He was born to a G1P0-->1 18 yo at full term. Prenatal exposures include tobacco (unknown amount). No other complications were reported during the pregnancy. He was a cesarean delivery due to positioning. He weighed 4 pounds, 15 ounces. No complications were reported immediately following birth. However, he had feeding difficulties and was hospitalized within the first week for weight loss.

His development is age appropriate. He is currently in the 11th grade with straight A's. His favorite subject is history.

He has a complex medical history. He has short stature (4'10''), growth hormone deficiency, and hypothyroidism and is followed by endocrinology. He is on GH therapy and used testosterone for a brief period. He is followed by pulmonology for recurrent pneumonia and mild bronchiectasis with interstitial lung disease. He was on a lung transplant list for interstitial pneumonitis but improved with steroids. He is followed by GI for Celiac disease with elevated TTG level. He is followed by dermatology for eczema. He sees rheumatology/allergy for immunodeficiency (currently on IVIG), joint pain in his knees, ankles, elbows (improved with Tylenol), and Perthes disease. He was found to have hypogammaglobulinemia and absent functional antibody response to polysaccharide vaccine. He also has delayed dentition, borderline delayed bone age, and a normal brain MRI in 2015.

SOCIAL HISTORY

Social History of: The patient lives with Father only, The patient is in the 11 grade. grades in school(Above average (mostly As and Bs)).
Additional Exam Comments:

Exam:
Wt: <3rd%ile; 50%ile for an 11yo
Ht:  <3rd%ile; 50%ile for an 11.5yo
HC: 90%ile for age

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