[CIS PIDD] [cis-pidd] Severe Dysregulatory Syndrome/ Growth failure/ Absent B cells

[CIS-PIDD]

Thank you Gigi!!! We are planning to perform the radiosentivity assay as
you suggest and the TCR variability too.
I will do CF for NK cells receptor!!

Thank you again

SOLE

2017-03-03 11:29 GMT-03:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> This may be an Omenn. Proliferation studies may be normal in Omenn, and a
> significant proportion of the patients do not have elevated IgE.
> Artemis should  to be dismissed as a possible cause. Although a
> heterozygous mutation was found, it would be important to rule out
> intragenic deletions on he other allele. Tese are very common in patients
> with Artemis defects. I would recommend performing cellular radio
> sensitivity testing, which would be important when it comes to the plan for
> transplant.
> We have found that both the RAG and the Artemis patients have a unique NK
> phenotype. Happy to help if you are interested.
>
> Luigi D. Notarangelo, MD
> Deputy Chief, Laboratory of Host Defenses
> National Institute of Allergy and Infectious Diseases, NIH
> Bldg 10, Room 5-3950
> 10 Center Drive
> Bethesda, MD 20892
> email: luigi.notarangelo2 at nih.gov
>
>
> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Date: Friday, March 3, 2017 at 9:18 AM
> To: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Subject: Re: [cis-pidd] Severe Dysregulatory Syndrome/ Growth failure/
> Absent B cells
>
> I would apprecite your thoughts about this case: 1 y.o and 4 months baby
> girl with dysregulatory syndrome presenting generalized serosis,
> suppurative erythematous exanthema, severe eosinophilia and malabsorptive
> syndrome from birth. Severe explosive diarrhea. Congenital hypothyroidism
> and severe growth failure.
>
> Skin biopsy: psoriasiform dermatitis
>
> Hair and eyelashes biopsy: Atypical Tricorrexis
>
>
>
> Immune laboratory:
>
> ·  Agammaglobulinemia (IgG, A and M)
>
> ·  Absence of B lymphocytes in peripheral blood.
>
> ·  Normal T lymphocyte subpopulations
>
> ·  Hypereosinophilia
>
> ·  IgE dosage lower than detection limit.
>
> ·  Normal lymphoproliferation assay (PHA, OKT3, SEB)
>
> ·  Decreased CD4 + CD25 + CD127low)
>
> ·  FOXp3 + cells: 2.83% (2.63-8.6% p5-p95)
>
> ·  Absent LTh17 + cells
>
> The high resolution karyotype was normal.
>
>
>
> NGS TrueSight one pannel: *DCLRE1C* (c.512C>G;p.Pro171Arg)  AND  *LIG4 *
> (c.1437G>T; p.Met479Ile), both Heterocygous
>
>
>
> Treatment:
>
>    - Gammagloboulin 1g/kg/15 days
>    - Free cow milk protein diet. Hidrolized milk
>    - Meprednisone 1mg/kg/day
>    - Paliative treatement: Carbinoxamin. Gabepentin. Paracetamol.
>    Lorazepam. Difenhidramin, ondansetron.
>    - Trimetoprim. Sulfametoxazol (4 mg: 5ml) 5 mg/kg/day
>    - Omeprazol
>    - Levotiroxin
>    - Fluticasone
>    - Montelukast
>    - Rapamycin
>    - Suplements and vitamins
>
>
>
> She presented suddenly an ulceration of her BCG scar
>
> Last blood cultures were positive for Klebsiella.
>
>
>
> Despite treatment and multidisciplinary following the patient presents bad
> evolution without clinical resolution, she is really severe. We suspect a
> dysregulatory syndrome. HLA studies are still pending.
>
>
>
> We would like to know if you think that the combination of these two
> heterozygous mutations could be the cause of this clinic, or if we should
> go deeper and do the exome sequencing.
>
>
> Thank you in advance!!
>
>
> *María Soledad Caldirola*
>
> Biochemist, PhD Fellow
>
> "Ricardo Gutierrez" Children's Hospital
>
> Buenos Aires, Argentina
>
>
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>
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