[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[Nacho Gonzalez]

Dear Joe,

FIPL1/PDGFα rearrangement was negative?

STAT3? I have seen a patient with a new mutation in linker domain
(decreased IL17 and peripheral Th17 cells) and 35% eos at the onset,
he developed pneumocystis pneumonia last month. However, there is no
explanation for CNS and vascular calcifications in your patient

Regards,


Luis Ignacio Gonzalez Granado
Immunodeficiencies.
Hospital 12 octubre. Madrid. Spain








2012/6/14 Church, Joseph <JChurch at chla.usc.edu>

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> Colleagues:

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> I will be seeing a 15yo Middle Eastern young man born to first cousins.

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> He has had chronic upper airway infections (H. influenzae and S. pneumoniae), recurrent presumed bacterial pneumonias, two year history of cervical adenopathy, and recent onset of ataxia.  He has had recurrent purpuric skin rashes on lower extremeties that last for ~3days.  Biopsies suggested "dermal hypersensitivity reaction” with negative immunofluoresence.

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> Vascular calcifications involving aorta, aortic arch were noted.

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> Ataxia was thought to be secondary to CNS calcifications (? confirmed)

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> Development is reportedly normal.

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> Limited labs available include the following:

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> WBC 10,700 with 37% eosinophils

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> CD4    332↓               IgG      21.1 g/L↑                    Hepatitis and HIV screening negative.

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> CD8    18%                IgA      6.19 g/L↑

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> CD19  892                 IgM      <0.1 g/L↓

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> NK      152                 IgE      1200 u/ml↑

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> Mandibular mass biopsy:  salivary gland with diffuse lymphocytic infiltrates.

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> I am unaware of any immunosuppressive therapy.

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> If this (rather incomplete) picture suggests any genetic syndrome, I would appreciate any help.

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> Thanks.

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> Joe Church

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> Children's Hospital Los Angeles

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