[CIS PIDD] [cis-pidd] CVID question

Thu Nov 2 12:08:12 EDT 2017

Before doing this you should test for LRBA protein expression.
So far I only know of one LRBA patient who had residual protein expression.
We offer the LRBA-FACS here at the CCI in Freiburg.
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: Thursday, 2 November 2017 18:01
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re:[cis-pidd] CVID question

Given the clinical history described (autoimmunity, hypogam, pulmonary nodules), I would suspect that the LRBA variants are disease causing and would consider transplant as a treatment option.

Jen Heimall, MD
Allergy/Immunology Attending Physician
Medical Director Day Medicine
Assistant Professor of Clinical Pediatrics
Perelman School of Medicine at University of Pennsylvania

The Children's Hospital of Philadelphia
3401 Civic Center Blvd
Philadelphia, PA 19104
215-590-2549 (p)
215-590-6849 (f)

________________________________
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: Thursday, November 2, 2017 11:45 AM
To: CIS-PIDD
Subject: [cis-pidd] CVID question

I would like your opinion regarding treatment for the following 14 yo young man from a non-consanguinous Syrian family.  He presented elsewhere at age 6 with hepatosplenomegaly and platelets of 4,000 and Hgb of 8 and was treated for ITP/Evans syndrome with good response (IVIG, steroids) and platelets increased to 100K.  However, liver and spleen remained very enlarged and treating physicians did a liver and spleen biopsies.  The pathology report (which is in a stored paper chart and I cannot retrieve) was read out as multiple granulomas, consistent with sarcoid.  He was referred to our rheumatology clinic.  PFTs were normal; CXR showed hilar adenopathy and Chest CT showed multiple small pulmonary nodules.  After much discussion re: lymphoma we treated him as sarcoid with methotrexate and steroids.  He had minimal response over many months, so Adalimumab was added, also with minimal response over many months.  The possibility of CVID was entertained and his IgG/A/M was 453/16/20.  He had had no steroids for months before this was done.  Lymphocyte subsets WBC 3.1; CD3 1093; CD4 560; CD8 445; CD 19 123.  Anti DT titers showed good immunity; anti-pneumococcal titers pre immunization were low.  Due to insurance issues, pneumovax boost was not done.  Other than having a rare drop in platelets to about 40K, he has been completely well and active.  His hepatosplenomegaly (liver span 17.3 cm; spleen 17.8 cm) has been stable.  However, his pft’s show progressive, but small, drops in DLCO.

His insurance, amazingly enough, permitted ARUP to do their panel for immune deficiency which has just returned yesterday.  He has the following mutations:  TNFRSF13B -- 260T>A (I87N) heterozygous; LRBA – Two variants of uncertain significance:  5030 A>G (Asn1677Ser) and 3914G>(Arg1305>His).  His TACI mutation is clearly associated with CVID.  But my question is what should I make of the LRBA?  Does anyone have any further knowledge of the significance of these?  Can we hypothesize that the TACI mutation PLUS the two LRBA variants can together be causing his HSM and pulmonary issues?  Unfortunately his insurance is not great, but what other further eval is appropriate, or should I just give him a trial of abatacept and see if the lungs and HSM improve?

Thanks for your input!

Kathleen A. Haines, M.D.
Section Chief, Pediatric Immunology
Section of Pediatric Rheumatology & Immunology
Joseph M. Sanzari Children’s Hospital

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