Autoimmune disease, multisystem, infantile-onset, 4

Preferred Label : Autoimmune disease, multisystem, infantile-onset, 4;

Symbol : ADMIO4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autoimmune disease with susceptibility to mycobacterium tuberculosis; AIMTBS;

Prefixed ID : #621004;

Details

Origin ID

621004;

Currated CISMeF NLP mapping
- infantile onset multisystem autoimmune disease 4 [DO Concept]
DO Cross reference
- infantile onset multisystem autoimmune disease 4 [DO Concept]
Genes related to phenotype
- Programmed cell death 1 [OMIM gene]
HPO term(s)
- Abnormal circulating IgE concentration [HPO term]
- Abnormal circulating IgM concentration [HPO term]
- Anti-glutamic acid decarboxylase antibody positivity [HPO term]
- Anti-insulin antibody positivity [HPO term]
- Anti-islet antigen-2 antibody positivity [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Childhood onset [HPO term]
- Diffuse alveolar hemorrhage [HPO term]
- Extrapulmonary tuberculosis [HPO term]
- Ground-glass opacification [HPO term]
- Hepatomegaly [HPO term]
- Hypothyroidism [HPO term]
- Immune dysregulation [HPO term]
- Increased circulating IgA concentration [HPO term]
- Increased circulating IgG concentration [HPO term]
- Lymphadenopathy [HPO term]
- Peritoneal abscess [HPO term]
- Pneumocystis jirovecii pneumonia [HPO term]
- Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay [HPO term]
- Recurrent otitis media [HPO term]
- Respiratory failure [HPO term]
- Splenomegaly [HPO term]
- Type I diabetes mellitus [HPO term]
- Verrucae [HPO term]

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