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

[CIS-PIDD]

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<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Friday, March 3, 2017 at 9:18 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto: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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