autosomal dominant hyper-IgE syndrome; Autosomal dominant hyper-IgE recurrent infection syndrome / Job-Buckley syndrome; autosomal dominant HIES; Job syndrome; autosomal-dominant hyper-IgE syndrome; STAT3 deficiency
Definition: Autosomal dominant hyper-IgE recurrent infection syndrome is caused by mutation in the STAT3 gene (MIM.102582) (Job-Beckley syndrome).
Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent (...)
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Immunodeficiency
Immune deficiency, Immunodeficiencies, Immune deficiencies
Articles
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STAT3-associated hyper-IgE syndrome
30 June 2011 -
DCLRE1C-associated SCID
16 June 2011Artemis-associated SCID
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autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
26 January 2006Synopsis
chronic diarrhea
recurrent bronchopneumonitis
hepatosplenomegaly
failure to thrive
Gram-positive and Gram-negative pyogenic bacteria infections
dry skin, rough skin
sparse scalp hair
conical teeth
Etiology
germline mutations in gene NFKBIA (MIM.164008) at 14q13
Refererences
Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, (...) -
X-linked agammaglobulinemia
5 March 2004XLA, XLAG, Bruton’s agammaglobulinemia. Ent. Nom. Bruton, 1952.
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human immunodeficiency with microcephaly
16 March 2007Physiopathology
DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system.
DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes.
Failure to properly repair DSBs results in genetic instability, developmental delay, and various forms of (...) -
immunodeficiency with hyper-IgM type 1
25 April 2005XHIGM; X-linked hyper-IgM syndrome; HIGM1: CD40L deficiency
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AIDS
7 April 2005Synopsis
opportunistic infections
cardiovascular lesions (#17163794#) myocarditis dilated cardiomyopathy pericardial effusion pericarditis left ventricle hypertrophy fibrocalcific arteriopathy aneurysms fibrocalcific lesions in medium-sized arteries and small vessels, mainly of the heart and brain vasculitis chronic inflammatory infiltrates in the the vasa vasorum of large arteries leukocytoclastic vasculitis
central nervous system infections
AIDS dementia
adult-type (...) -
immunodeficiency with hyper-IgM type 3
26 January 2011HIGM3
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hyper-IgE recurrent infection syndromes
30 June 2011HIES, hyper-IgE recurrent infection syndrome
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ADA-associated SCID
16 June 2011ADA-associated SCID is a T-, B-, NK- SCID (MIM.102700) caused by mutation in the ADA (MIM.608958) gene on 20q13.11
See also
severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID IL7R-associated SCID ADA-associated SCID T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p (DCLRE1C-associated SCID) T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (RAGs-associated SCID)
Approximately 20 to 30% (...)