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  • Omenn Syndrome

    Încărcat de

    Thomas Wayne
    46 vizualizări9 pagini
    Ricardo Reis, a 7-year-old male, was admitted to the hospital with a rash that started on his legs and spread to his entire body, as well as loose bowel movements and enlarged lymph nodes. Tests showed very low levels of immunoglobulins, absent B-cells, and few functioning T-cells. He was diagnosed with Omenn syndrome, a severe combined immunodeficiency disorder caused by mutations in RAG genes. Omenn syndrome is characterized by erythrodermia, diarrhea, infections, and high IgE levels. Despite treatment, Ricardo died of a Pneumocystis jiroveci infection.

    Descriere originală:

    Presentation on one of the SCID variant

    Titlu original

    Omenn syndrome

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    Ricardo Reis, a 7-year-old male, was admitted to the hospital with a rash that started on his legs and spread to his entire body, as well as loose bowel movements and enlarged lymph nodes. Tests showed very low levels of immunoglobulins, absent B-cells, and few functioning T-cells. He was diagnosed with Omenn syndrome, a severe combined immunodeficiency disorder caused by mutations in RAG genes. Omenn syndrome is characterized by erythrodermia, diarrhea, infections, and high IgE levels. Despite treatment, Ricardo died of a Pneumocystis jiroveci infection.

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    © All Rights Reserved
    Descărcați ca PPTX, PDF, TXT sau citiți online pe Scribd
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    46 vizualizări9 pagini

    Omenn Syndrome

    Încărcat de

    Thomas Wayne
    Ricardo Reis, a 7-year-old male, was admitted to the hospital with a rash that started on his legs and spread to his entire body, as well as loose bowel movements and enlarged lymph nodes. Tests showed very low levels of immunoglobulins, absent B-cells, and few functioning T-cells. He was diagnosed with Omenn syndrome, a severe combined immunodeficiency disorder caused by mutations in RAG genes. Omenn syndrome is characterized by erythrodermia, diarrhea, infections, and high IgE levels. Despite treatment, Ricardo died of a Pneumocystis jiroveci infection.

    Drepturi de autor:

    © All Rights Reserved
    Descărcați ca PPTX, PDF, TXT sau citiți online pe Scribd
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    din 9

    SCID

    (OMENN
    SYNDROME)

    Ricardo Reis:

    Male, 7 years old

    Normal birth history

    Parents have three normal children but have had two previous death after similar rash
    complaint after 1 month old.

    Soon after birth


    10 loose bowel movements a
    day
    th day
    17th
    Rash: legs entire body
    Hospital admission

    During admission

    Enlarged lymph nodes


    Abscess drained: S.
    aureus & C. albicans
    Oral thrush

    Immunologist consulted

    Hospital examination
    Purulent eye discharge
    Normal eardrums
    Lymph node (-)

    Further examination

    Blood test diff count:

    X-Ray

    Eosinophils 56% (N: <5%)


    Monocyte 23% (N: 10%)
    Neutrophils 5%
    Lymphocytes 6% (N: 50%)

    Low IgG, IgM and IgA: (-)


    Very high IgE (7200 IU/ml N:
    <50 IU/ml)

    Thymic
    Normal

    shadow (-)
    cor/pulmonale

    Immunological
    examination
    Blood test
    Absent B-cells
    Scarce T cells
    Poor respond to CD3
    monoclonal antibody

    FACS Analysis
    No reaction to CD19
    All lymphocytes are CD3+
    90% coexpressed
    CD45RO
    65% coexpressed MHC II
    80% CD4+
    15% CD8+
    Low T-cell repertoire
    As these tests were carried
    out, Ricardo died of PCP.

    IMMUNOLOGICAL
    BACKGROUND

    Omenn syndrome: a variant of SCID

    Mutant RAG-1 or RAG-2 genes no V(D)J


    recombination
    No B cells
    Non-functioning T cells
    Oligoclonal population
    of self-reactive T cells

    Inflammation

    Conclusion: Entire adap-

    IMMUNOLOGICAL
    BACKGROUND

    Place of RAG-1&2 in the differentiation of


    lymphocytes:

    CLINICAL ASPECTS

    SCID

    Extremely vulnerable to infections

    Omenn Syndrome

    Erythrodermia, chronic diarrhea, (opportunistic)


    infections, failure to thrive, lymphadenopathy,
    hepatosplenomegaly
    Lab: Eosinophilia, low Igs but high IgE, absence
    B-cells, low T-cell count.
    Complications: Vaccines, infections (pneumocystis
    jiroveci) lethal

    DIAGNOSIS

    Blood test: B- and T-cells (and markers),


    leukocytes, immunoglobulins
    Symptoms: failure to thrive, diarrhea, swollen
    lymph nodes, inflammation of the skin, low T-cell
    levels and no B-cells
    DD:
    Other SCID types: X-linked severe combined
    immunodeficiency (X-SCID), Adenosine
    deaminase deficiency
    Hyper IgE syndrome (Job syndrome)
    Histiocytosis

    MANAGEMENT

    Isolation
    Bone marrow transplantation

    DISCUSSION

    QUESTIONS?

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