[CIS PIDD] [cis-pidd] patient question

Sun Jul 30 15:49:53 EDT 2017

Thanks Bodo - we will check that out also.

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

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Sunday, July 30, 2017 8:23 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] patient question

Dear Prescott,
This is to advise that in case STAT3 is wild type, of the hits you have attached  also RTEL1 (although I am not the expert in this) may have disease-causing variants inherited in an AD fashion, i.e. a het mutation may cause disease... measuring telomere length may give the answer in this case...
Yours, 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<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci<http://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: Tuesday 13 June 2017 19:03
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: [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

[cid:image002.png at 01D30943.20ED5580]

[cid:image003.png at 01D30943.20ED5580]

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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