[CIS PIDD] [cis-pidd] Question from Juan Carlos Aldave

[Verbsky, James]

Dr Aldave

Stat5b should have growth changes from birth.  Also¡­IGF1 and IGFBP3 should be low, prolactin should be high.  From what you have listed¡­this isn¡¯t STAT5b.  I think Dr Risma is on target with her assessment.  Guess the growth failure is from inflammation and renal disease.  Below is a reference that sounds fairly similar

Best

James


James W. Verbsky M.D./Ph.D.
Associate Professor of Pediatrics and Microbiology
Medical College of Wisconsin
Milwaukee, WI
414-266-6701



Pediatr Nephrol.<http://www.ncbi.nlm.nih.gov/pubmed/11198604> 2001 Jan;16(1):51-6.
Human T-cell lymphotropic virus-1-associated renal disease in Jamaican children.
Miller ME<http://www.ncbi.nlm.nih.gov/pubmed?term=Miller%20ME%5BAuthor%5D&cauthor=true&cauthor_uid=11198604>1, Shah DJ<http://www.ncbi.nlm.nih.gov/pubmed?term=Shah%20DJ%5BAuthor%5D&cauthor=true&cauthor_uid=11198604>, Barton EN<http://www.ncbi.nlm.nih.gov/pubmed?term=Barton%20EN%5BAuthor%5D&cauthor=true&cauthor_uid=11198604>, Gray AH<http://www.ncbi.nlm.nih.gov/pubmed?term=Gray%20AH%5BAuthor%5D&cauthor=true&cauthor_uid=11198604>, Yeates CB<http://www.ncbi.nlm.nih.gov/pubmed?term=Yeates%20CB%5BAuthor%5D&cauthor=true&cauthor_uid=11198604>.
Author information <http://www.ncbi.nlm.nih.gov/pubmed/11198604>

  *   1Section of Child Health, University of the West Indies, Mona, Kingston 7, Jamaica, West Indies. maorellim at cwjamaica.com
Abstract
This report documents the clinicopathological features in two Jamaican children who presented with infective dermatitis, glomerulonephritis, renal failure and human T-cell lymphotropic virus (HTLV-1) seropositivity. Severe hypertension with hypertensive encephalopathy was the most impressive clinical feature. Histological findings from renal biopsy specimens in both cases revealed significant glomerulosclerosis with fibrosis, chronic inflammatory cell infiltrates in the interstitium, and arteriolar hypertensive changes. Membranoproliferative glomerulonephritis (MPGN) was demonstrable in case 1 and marked focal glomerulosclerosis in case 2. Case 1 developed end stage renal failure and died within 3 years of diagnosis. Case 2 remains hypertensive and in chronic renal failure. Although a causal relationship between HTLV-1 infection and renal disease cannot be proven by these two cases, it appears that renal involvement in children with HTLV-1 infection is severe, with the potential for chronic renal failure and malignant hypertension. HTLV-1 nephropathy should be suspected in children with infective dermatitis and renal disease.


From: Juan Carlos Aldave Becerra [mailto:jucapul_84 at hotmail.com]
Sent: Monday, May 05, 2014 11:08 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] Question from Juan Carlos Aldave

Dear professors,
Thank you for your kind suggestions.
- Dr. Borzutzky, I have also thought of STAT5b deficiency, I wonder if clinical manifestations can present at 9 years of age (before that age the patient was apparently totally healthy, including body growth). Can I send you a sample for STAT5b sequencing?
- Dr. Risma, I would be glad to know if you performed any genetic testing for an underlying PID, and what was the clinical course of your patient's disease. I do not think that the severe growth arrest is due only to systemic inflammation. I would appretiate your suggestions about therapy.
- Dr. Sokolic, I also think that the eosinophilia is secondary. The flow citometry result did not report if the CD8+CD45RO+ T cells were DR+. I will discuss with the caring physicians about performing a liver or lymph node biopsy.

I will keep you updated,
Sincerely,

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Hospital Nacional Edgardo Rebagliati Martins
Lima, Peru


> From: sokolicr at mail.nih.gov<mailto:sokolicr at mail.nih.gov>

> To: cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>

> Subject: Re: [cis-pidd] Question from Juan Carlos Aldave

> Date: Mon, 5 May 2014 14:32:59 +0000

>

> With hepatosplenomegaly, lymphadenopathy, HTLV-1 positivity, and a preponderance of CD4+CD45RO+ and HLA-DR+ T-cells, I would want to rule out chronic or smoldering ATLL. In this case, the eosinophilia would be secondary. Are the CD4+CD45RO+ cells also DR+? Would biopsy a LN or liver. ATLL wouldn't explain growth hormone insensitivity, so it might not all fit together, but I think biopsy is indicated in any case.

> Rob Sokolic

>

> From: <Sullivan>, Kathleen <sullivak at mail.med.upenn.edu<mailto:sullivak at mail.med.upenn.edu<mailto:sullivak at mail.med.upenn.edu%3cmailto:sullivak at mail.med.upenn.edu>>>

> Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org%3cmailto:cis-pidd at lists.clinimmsoc.org>>>

> Date: Monday, May 5, 2014 9:59 AM

> To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org%3cmailto:cis-pidd at lists.clinimmsoc.org>>>

> Subject: [cis-pidd] Question from Juan Carlos Aldave

>

> Dear professors,

>

> I evaluated this week a 16 yr-old boy with a very puzzling clinical picture. I describe below the clinical history.

>

> The main features are:

> - HTLV-1¨Cinduced infective dermatitis

> - Deep skin ulcer infected by Pseudomona aeruginosa and Stenotrophomonas maltophilia

> - Immune abnormalities: low naive CD4+ T cells, marked T-cell activation, low B-cell counts, marked eosinophilia

> - Arrest of body growth and sexual development: insensitivity to growth hormone? (low GH, high IGF-1)

> - Anemia, hepatosplenomegaly

> - Marked hypoalbuminemia

>

> I would appreciate your expert insights and suggestions.

> Thank you very much.

>

>

> Lima, Peru

>

> -----------------------------

> May 3rd 2014

> Boy, 16 years of age

> Date of birth: August 23rd 1997

> Blood group: A Rh(+)

>

>

>

> FAMILY HISTORY:

> - No family members with suspicion of PID.

> - 2 half-brothers and 4 half-sisters (some mother), all healthy.

> - No consanguinity.

>

>

>

> PERSONAL HISTORY:

> - Weight at birth=2500 g

> - No adverse reaction to BCG.

> - Current weight=24 kg (very low for age)

> - Current height=126 cm (very low for age)

>

>

>

> CURRENT DISEASE:

> - Completely healthy up to 9 years of age (weight at that time=36 kg).

> - From 9 years of age: abdominal erythema with blisters, desquamation and scaling; relapsing course with progressive expansion to all the body; partial response to high-dose systemic corticosteroids. Recurrent fever, general malaise.

> - From 9 years of age: arrest of body growth and sexual development.

> - One episode of thrush at 10 years of age while taking systemic corticosteroids.

> - ¡°Pneumonia¡± one year ago, required intravenous antibiotics, no microorganisms were isolated.

> - One month ago, an ulcer appeared on the right buttock. The ulcer has expanded progressively. Culture of the secretion: Pseudomona aeruginosa. Blood culture: Stenotrophomonas maltophilia.

> - No chronic or recurrent diarrhea.

>

>

>

> PHYSICAL EXAM:

> Growth delay (patient appears like a 9-year-old child).

> No development of secondary sex characteristics.

> Diffuse erythematous scaling all over the body (please see the attached photographs).

> Deep ulcer of about 10 cm on the right buttock.

>

>

>

> WORK UP:

> April 10th, 2014:

> - Hb=7.8 g/dL; platelets=438,000; WBC=7,650; neutrophils=5,620; lymphocytes=1,550; monocytes=240; eosinophils=200, basophils=40/mm3

> April 25th, 2014:

> - Hb=10.6 g/dL (after blood transfusion); platelets=645,000; WBC=16,470; neutrophils=3,730; lymphocytes=3,030; monocytes=570; eosinophils=8,490, basophils=200/mm3

> - Serum glucose, urea and creatinine: within normal limits

> - C-reactive protein=2.57 mg/dL

> - Albumin=1.63 g/dL; total bilirubin=0.39 mg/dl; lactate dehydrogenase=292 mg/dl; AST=30 U/L; ALT=31 U/L; ¦Â2 microglobulin=4.73 mg/L

> - IgG=2159, IgA=373, IgM=340 mg/dL, IgE¡Ý2000/mL

> - IgG to CMV and toxoplasma: positive titers

> - IgM to EBV, CMV, toxoplasma and rubella: negative

> - Serology for HBV, HCV and HIV: negative

> - Antibodies to HTLV: reactive 118.87 (normal values <1)

> - Stool analysis for ova: negative.

> - CT: mild left pleural effusion with atelectasis; no mediastinal or axillary lymphadenopathies; homogeneous hepatosplenomegaly; retroperitoneal left para aortic lymphadenopathies.

> - Cardiac US: normal systolic function, mild diastolic dysfunction of the left ventricle.

> - Skin biopsy: hyperkeratosis with parakeratosis and microabscesses; psoriasiform acanthosis; edema in the papillary dermis; marked chronic perivascular inflammatory infiltrate with extension to the papillary dermis; abundant eosinophils; incontinentia pigmenti.

> April 30th, 2014:

> - Hb=8.1 g/dL; platelets=585,000; WBC=15,780; neutrophils=5,210; lymphocytes=3,140; eosinophils=6,560/mm3

> - ESR=45 mm/h; C-reactive protein=3.04 mg/dL

> - Albumin=1.73 g/dL; bilirubin and liver enzymes within normal levels; 9 mg/dl; lactate dehydrogenase=292 mg/dl; ¦Â2 microglobulin=6.33 mg/L

> - Vit B12 >1000 pg/mL; folic acid within normal levels.

> - Free T3=1.64 pg/mL (normal values: 1.80-4.2)

> - Free T4, TSH, prolactin, ACTH (8 a.m.), LH, FSH: within normal levels

> - Growth hormone=11.1 ng/mL (normal levels <3)

> - IGF-1 (somatomedin C) <25 (normal levels: 193-731)

> - Total lymphocytes=3140

> - CD3+ cells=2587 (21% are DR+)

> - CD4+ cells=1878

> - CD4+CD45RA+ T cells=10%; CD4+CD45RO+ T cells=90%

> - CD8+ cells=647

> - CD8+CD45RA+ T cells=65%; CD8+CD45RO+ T cells=35%

> - TCR¦Ã¦Ä CD3+ cells=1.3%

> - TCR¦Á¦Â DN CD3+ cells=2%

> - CD19+ cells=104 (3.3%)

> - CD56+ cells= 371 (11.8%)

> - CD3+CD56+ cells= 47 (1.5%)

> - Proteinuria=758 mg/day (normal values <150 mg/day).

> Kate Sullivan, MD PhD

> Wallace Chair of Pediatrics

> Professor of Pediatrics

> ARC 1216 Immunology CHOP

> 3615 Civic Center Blvd.

> Philadelphia, PA 19104

> (p) 215-590-1697

> (f) 267-426-0363

>

>

>

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