[CIS PIDD] [cis-pidd] Hyper IgM syndrome?

Tue Jul 12 12:39:47 EDT 2016

Dear colleague,
agree with previous advice. I would check WES coverage for APDS and LRBA
(though normal FOXP3 is against such option), we are following two patients
similar with such diagnosis.
All the best,
Nacho

*Luis I. Gonzalez-Granado. MD.*Immunodeficiencies Unit. Hospital 12 de
octubre.Research Institute Hospital 12 octubre (i+12)
Av. Cordoba S/N. 28041. Madrid. Spain
Tel. *0034**606732959 / * 0034913908569  /  Fax 0034913908772
<0034934893039>luisignacio.gonzalez at salud.madrid.org
<luisignacio.hdoc at salud.madrid.org>ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009ResearchGate:
https://www.researchgate.net/profile/Luis_Gonzalez-Granado LinkedIn:
https://es.linkedin.com/in/nachgonzalez

2016-07-12 17:56 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> Hi Elena;
>
>   No other sinopulmonary issues? We had a patient with APDS (PIK3CD) with
> ITP, bronchiectasis and similar lymph node architecture on biopsy.
> Additionally, she had quite decreased memory B and naïve CD4 cells.
>
>
>
> Blachy J. Dávila Saldaña, MD
> Attending Physician, Division of Blood and Marrow Transplantation
> Children's National Health System
> Assistant Professor of Pediatrics
> George Washington University School of Medicine and Health Sciences
> 111 Michigan Avenue, N.W.
> Washington, DC 20010
> Phone: 202-476-4561
> Fax: 202-476-2280
>
>
>
> -----Original Message-----
> From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> Sent: Tuesday, July 12, 2016 11:33 AM
> To: CIS-PIDD
> Subject: [cis-pidd] Hyper IgM syndrome?
>
> Dear colleagues,
>
> I am writing to ask you for your opinion about a challenging case.
>
> Our patient is a 14yo boy who was healthy until the age of 9yo when he had
> two episodes of ITP episodes treated with steroids, IVIG, and rituximab.
> Then this year, he was hospitalized for fever with ITP, Coombs+ anemia,
> weight loss, pulmonary nodules on chest CT, and significant splenomegaly.
> He was treated with IV antibiotics, and slowly improved, without any immuno
> suppression.  Immunoglobulin levels demonstrated IgA <5, IgG <25, IgM 1357
> (last rituxtimab dose 4 years ago). Lymph node biopsy demonstrated
> follicular hyperplasia with predominant primary follicles (no
> polarization), and increased IgM+ lymohoplasmacytic cells.  No evidence of
> malignancy nor plasmactyosis.  BM biopsy demonstrated mildly hypo cellular
> marrow (70%) with active trilineage hematopoiesis.  Normal T cell, NK, and
> total B cell numbers, but decreased (close to zero) isotope switched B
> cells (CD19+CD38+IgM-, CD19+CD27+IgM-IgD-).  Normal Treg cell numbers
> (foxp3 stain).  Lymphocyte stimulation with normal mitogen and tetanus
> response (mildly decreased ConA, but otherwise normal). A battery of
> infectious studies all yielded negative results (EBV, CMV, bacterial cx,
> PCP, fungal cx, mycobacterial cx).
>
> WES sent at this point, and started on IgG replacement, with no other
> immunomodulator. Splenomegaly significantly improved, no fevers, normal
> CBC, still some fatigue, slowly regaining weight.   3 months later, repeat
> immunoglobulins demonstrate IgG 207, IgA<10, IgM 340.  WES results (GeneDx)
> demonstrate het mutations for PKLR (pyruvate kinase deficiency), VPS13B
> (Cohen syndrome), and ANK1 (hereditary spherocytosis).  Given his IgM has
> almost normalized with only IgG supplementation, this is unlikely HIGM I
> think. CD40/40L,UNG, AID, IKBa coverage was pretty good. NEMO coverage not
> so good (26%).  He however does not many any of the physical exam features,
> and does not have any GI issues.  None of the mutations founds are
> consistent with his phenotype, and they are only heterozygous.
>
> I’m facing a diagnostic dilemma at this point.  My original thought of
> HIGM seems to have gone out the window, any other suggestions?
>
> Thanks,
>
> Elena Hsieh, MD
> Department of Immunology and Microbiology Department of Pediatrics,
> Division of Allergy and Immunology University of Colorado, Denver
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