[CIS PIDD] [cis-pidd] A disorder of immunodysregulation?

Mon Aug 28 16:09:13 EDT 2017

There was no evidence of arthritis.No significant haematuria. It was
transient microscopic hematuria.

Vignesh P
MD Pediatrics,
DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015-
Dec 2017),
Allergy Immunology Unit, Advanced Pediatrics Center,
Postgraduate Institute of Medical Education and Research,
Chandigarh, India. 160012.
E mail: vigimmc at gmail.com
Phone no: +91-9592047009, +91-9944547009

On Tue, Aug 29, 2017 at 1:37 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Dear Dr. Hauck and Dr. Yu
>
> Thank you for the super fast responses.
>
> Replying to your queries
>
> 1. The serum IgE was normal and there was no eosinophilia
> 2. No candidiasis ever
> 3. The LRI episodes were mostly viral (clinically) and no extensive
> investigations were sent as they settle with supportive care
> 4. The flowcytometry was sent prior to starting steroids
> 5. Workup for CF was negative
>
> Vignesh P
> MD Pediatrics,
> DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015-
> Dec 2017),
> Allergy Immunology Unit, Advanced Pediatrics Center,
> Postgraduate Institute of Medical Education and Research,
> Chandigarh, India. 160012.
> E mail: vigimmc at gmail.com
> Phone no: +91-9592047009, +91-9944547009
>
> On Tue, Aug 29, 2017 at 1:20 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> wrote:
>
>> Dr. Vignesh:
>>
>>
>>
>> An interesting case.  Please permit me to pose a few questions to clarify
>> the case for myself and others on the listserve –
>>
>>
>>
>> #  What is the infant’s IgE level?  Is there any eosinophilia in the
>> hemograms?
>>
>>
>>
>> #  “Lower respiratory infections – no organisms isolated” could mean two
>> very different things.  Did the infant actually have negative bacterial and
>> viral studies of relevant specimens (blood, nasal wash,
>> intubation/endotracheal fluid, etc.), or are there “no organisms isolated”
>> because no one has bothered to send testing, and the infant got better with
>> or without empiric therapy of a presumed infection (and if with, were the
>> patient’s physicians convinced that the anti-infective therapy actually
>> help)?
>>
>>
>>
>> #  Any evidence of either GI or renal protein and/or cell loss?  How
>> significant was the infant’s hematuria?  Did the infant have stool occult
>> blood testing turn positive?
>>
>>
>>
>> #  Was there testing done for cystic fibrosis?  Any candidiasis?  Any
>> arthritis?  Any fever (before the prednisone was started)?
>>
>>
>>
>> #  Do you have any functional T cell studies or TREC counts?  Did the T
>> lymphopenia precede corticosteroid therapy, or is this information not
>> available?
>>
>>
>>
>> The case appears to be half-consistent with a number of potential
>> diagnoses … but just half.  My D/Dx is all over the place … “just”
>> malnutrition due to milk allergy, IPEX,  APECED type 2, a severe case of
>> selective IgA deficiency (akin to Ammann and Hong, Clin Exp Imm 1970 … just
>> without a genetic diagnosis), DOCK8, Evan’s, an early ALPS, some late onset
>> SCID vs. Omenn, and even infantile SLE.
>>
>>
>>
>> The only thing I might be sure of is that there was some protective
>> effect temporally associated with breast-feeding.
>>
>>
>>
>>           - K
>>
>>
>>
>> Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
>>
>> Scientist II and Assistant Director, Center for Infectious Diseases and
>> Immunology
>>
>> RGH Research Institute | Rochester General Hospital | Rochester Regional
>> Health
>>
>> 1425 Portland Ave., Room R-403, Rochester, NY   14621
>>
>> Tel  585-922-3709  |  Fax  585-922-2415
>>
>>
>>
>>
>>
>>
>>
>> *From:* cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] *On
>> Behalf Of *CIS-PIDD
>> *Sent:* Monday, August 28, 2017 3:41 PM
>> *To:* CIS-PIDD
>> *Subject:* AW: [cis-pidd] A disorder of immunodysregulation?
>>
>>
>>
>> Dear Vignesh,
>>
>>
>>
>> thank you for sharing this interesting case.
>>
>> Even though FOXP3 was normal on the gene panel, I would propose to
>> analyze Treg cells (CD4+CD25hiCD127loFOXP3) by flow cytometry and
>> eventually include a CTLA4 and LRBA staining.
>>
>> I am not quite sure whether the reduced T cell counts were measured under
>> steroids - but as B and NK cells are normal, I can imagine that this might
>> by a primary finding. Therefore I would propose to do a workup for combined
>> immunodeficiency, i.e. naive/memory T cells (CD45RA and CCR7), recent
>> thymic emigrants, TCR repertoire and lymphocyte proliferation testing. The
>> findings might direct additional analysis...
>>
>>
>>
>> I hope that helps,
>>
>> 
>>
>> Fabian
>>
>>
>>
>> *PD Dr. med. Dr. sci. nat. Fabian Hauck*
>>
>>
>>
>> Oberarzt / Leiter Immundefektambulanz und Immundiagnostisches Labor
>> Kinder- und Jugendarzt / Kinderhämatologe und -onkologe / Fachimmunologe
>> (DGfI)
>>
>>
>> *Dr. von Haunersches Kinderspital*
>> Klinikum der Universität München
>> Lindwurmstr. 4, 80337 München, Germany
>>
>>
>> ------------------------------
>>
>> *Von:* cis-pidd at lyris.dundee.net <cis-pidd at lyris.dundee.net> im Auftrag
>> von CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
>> *Gesendet:* Montag, 28. August 2017 19:28
>> *An:* CIS-PIDD
>> *Betreff:* [cis-pidd] A disorder of immunodysregulation?
>>
>>
>>
>> Dear all
>>
>> A friend of mine is dealing with a perplexing case who has eczema,
>> immunodeficiency, and autoimmunity. Any suggestions for further
>> investigations and management would be greatly appreciated.
>>
>> 1 year 5 month male child born of non-consanguineous marriage was
>> apparently normal till 7 months of age
>>
>> *Issues:*
>>
>> 1. Chronic diarrhea/ failure to thrive/ malabsorption - onset at age of
>> 10 months .He was having a steady weight gain upto 10 months and weighed
>> 6.5 kgs at 10 months.He is currently on Soy based and proteinhydrolysate
>> formula feeds,but persisting to have loose stools
>>
>> 2. Autoimmune hemolytic anemia (DCT2 + )required one transfusion for
>> severe anemia .He is presently  on steroids (oral prednisolone)
>>
>> 3. Polyuria/ polydipsia multiple admission for dehydration,
>> dyselectrolytemia.
>>
>> -Modified water deprivation test which was not conclusive of Diabetes
>> Insipidus
>>
>> had microscopic hematuria managed conservatively.
>>
>> 4. Immunodeficiency - has low serum IgA levels - 3mg/dl (IgG/ M/E normal)
>>
>>                                      absolute CD3 CD4 and CD8 below
>> normal
>>
>> 5.History of eczema at 5 months of age.Now has dermatitis and dry
>> skin?Nutritional
>>
>> *Past History:*Treated for Lower respiratory infections -3 episodes from
>> 7 to 10 months-Treated with nebulisations- no organisms isolated
>>
>> *Birth History:*
>>
>> Preterm/35 weeks/Born by emergency LSCS- Antenatal oligohydramnios
>>
>> Was in NICU for 4 days/CPAP for one day.Exclusively breast fed upto 6
>> months of age
>>
>> *Family history :* Mother was being treated for autoimmune hemolytic
>> anemia, had 2 spontaneous abortions, diagnosed to have APLA during this
>> pregnancy was treated with heparin.
>>
>> Maternal grand father h/o rheumatoid arthritis
>>
>> *WORK UP*:
>>
>> Complete Hemogram-Hb LOW (5 g/dl at presentation)  total white
>> cells-19300 (N67, L30, M 2, E 1) PLATELETS low normal 1.5 to 2 lac ,Mean
>> Platelet Volume-Normal
>>
>> *Direct Coombs test ++*
>>
>> Renal function tests- serum creatinine normal
>>
>> LFT: SGOT/ SGPT- normal, Serum albumin 2.3, alkaline phosphatase 770
>>
>> STOOL ROUTINE *CRYPTOSPORIDIUM OOCYST ++* TREATED ADEQUATELY FOR THE SAME
>>
>> stool ocult blood negative.
>>
>> Retoviral status-Negative
>>
>> *Serum- C3-27.4 (80-156)-low*
>>
>> *Serum C4-<6.65(12-43)-low*
>>
>> *ANA(Immunoflourescence)-Weak positive*
>>
>> *Extended Panel of Antibodies-Multiple antibodies were positive*
>>
>> Anticentromere antibody=*39.4*(<20)
>>
>> Antii JO-1                            =*45.25(*<20)
>>
>> Anti-Scl-70                          =*40.45*(<20)
>>
>> Antismith                            =*34.18*(<20)
>>
>> SSA                                       =*39.91*(<20)
>>
>> U1RNP Ab                           =*32.5*(<20)
>>
>> Anti cardiolipin Ab            =7.45(12)
>>
>> Anti phopholipid Ab IgM-*18.47*(<10)
>>
>> Lupus anti coagulant =Negative
>>
>> RA factor +
>>
>> GI scopy UGI scopy AND Colonoscopy normal
>>
>> Biopsy mild chronic duodenitis
>>
>> T3, T4 , TSH normal
>>
>> Celiac antiobodies -TTG-Ig A negative
>>
>> *Anti gliadin antibody + =34.18(<25)*
>>
>> *Serum Immunoglobulin Prolife*
>>
>> IgG=611 mg/dl(340-1200)
>>
>> IgA=3 mg/dl(15-110)
>>
>> IgM=67 mg/dl(45-200)
>>
>> *Flowcytometry*
>>
>> CELL
>>
>> RESULT
>>
>> REFERENCE
>>
>> UNIT
>>
>> CD3+(Tcells)
>>
>> *18.64*
>>
>> 53-81
>>
>> %
>>
>> CD3+(Absolute count)
>>
>> 664
>>
>> 1460-5440
>>
>> Cells/ul
>>
>> CD3+CD4+
>>
>> *9.52*
>>
>> 31-54
>>
>> %
>>
>> CD3+CD4+(Absolute count)
>>
>> 339
>>
>> 1020-3600
>>
>> Cells/ul
>>
>> CD3+CD8+
>>
>> *7.88*
>>
>> 16-38
>>
>> %
>>
>> CD3+CD8+(Absolute count)
>>
>> 281
>>
>> 570-2230
>>
>> Cells/ul
>>
>> CD3-/CD19+
>>
>> 54.90
>>
>> 11-45
>>
>> %
>>
>> CD3-/CD19+(Absolute count)
>>
>> 1536
>>
>> 430-3300
>>
>> Cells/ul
>>
>> CD3-/CD56+
>>
>> 10.52
>>
>> 3-19
>>
>> %
>>
>> CD3-/CD56+(Absolute count)
>>
>> 294
>>
>> 80-340
>>
>> Cells/ul
>>
>> T4/T8 RATIO
>>
>> 1.21
>>
>> 1.17-6.62
>>
>>
>>
>>
>>
>> Targeted gene sequencing(Exonic) for Primary Immunodeficiency: *No
>> mutations detected in FOXP3 / STAT1/ STAT5B/IL10/IL10 RA/IL10RB/IL2RA *
>>
>> Kindly provide inputs for further management.
>>
>> Thank you.
>>
>> Vignesh P
>>
>> MD Pediatrics,
>>
>> DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015-
>> Dec 2017),
>>
>> Allergy Immunology Unit, Advanced Pediatrics Center,
>>
>> Postgraduate Institute of Medical Education and Research,
>>
>> Chandigarh, India. 160012.
>>
>> E mail: vigimmc at gmail.com
>>
>> Phone no: +91-9592047009, +91-9944547009
>>
>>
>>
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