Disease Information for Omenn's (CHILD) Syndrome

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Clinical Manifestations
Signs & Symptoms
Baldness/Alopecia
Erythematous generalized rash
Hair loss
Non-scarring Alopecia/balding
Pachyderma
Rash
Diarrhea
Diarrhea, chronic
Diarrhea, recurrent
Lymphadenopathy
Lymphadenopathy Systemic
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Splenomegaly
Disease Progression
Course/Prognosis bad/usually
Lethal Potential
Demographics & Risk Factors
Sex & Age Groups
Population/Infant
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings - Increased
Circulating Total T-Cell Count
Eosinophiles (LAB)
IGE/Immunoglobulin E (Lab)
Diagnostic Test Results
Pathology
PATH/Thymus T-Cells Absent
Associated Diseases & Rule outs
Rule Outs
Graft vs host reaction
Associated Disease & Complications
Bacterial infection, general
Eosinophilia Hypereosinophilia
Hypogammaglobulinemia
Immunodeficiency
Infections
Neonatal Erythroderma
Omenn's (CHILD) Syndrome
Opportunistic infections triggers/causes
Phocomelia
Severe combined immunodeficiency syndrome
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 11p13
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 10p
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 11p
Pathophysiology/T-Cells Attack own cells
Pathophysiology/Artemis DCLRE1C Gene Mutation
Pathophysiology/RAG1 Gene Mutation
Patthophysiology/RAG2 Gene Mutation
Pathophysiology/Defective cellular immunity
Pathophysiology/Immune/cellular system disorder (ex)
Process
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
Synonyms
Synonym
Synonym/Reticuloendotheliosis Familial with Eosinophilia, Synonym/SCID with Eosinophilia
Definition

Omenn's syndrome is a rare, autosomal recessive disease that is characterized by symptoms of a severe combined immune deficiency, severe infections, erythrodermia, hypereosinophilia, hepatosplenomegaly, lymphadenopathy, protracted diarrhoea, hypogammaglobulinemia and elevated serum IgE. The presented case demonstrates diagnostic problems in recognizing Omenn's syndrome. These resulted predominantly from the incomplete clinical picture of the disease in its early phase. Persistent erythrodermia was the basic manifestation of the syndrome in the initial phase. Since the occurrence of the disease is extremely rare and particular symptoms are not pathognomonic, it is their co-occurrence in association with typical immunological disorders that enabled to establish the diagnosis. Through the presentation of the above case history we should like to point to the necessity of considering Omenn's syndrome in differentiating causes of erythrodermia in neonates and infants.

[pubmed online poland Dr Wozniakowsa-Gesicka 2009]

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External Links Related to Omenn's (CHILD) Syndrome
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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