Disease #03430 (C1SD (C1s deficiency), OMIM:613783)

Official abbreviation C1SD
Name C1s deficiency
OMIM ID 613783
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 5
Associated with 1 gene C1S
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00435215 - Journal: Alshekaili 2023 A C1S-deficient family presenting with a Kikuchi-Fujimoto disease (KFD) M yes Oman - - - - - C1SD Homozygous probands presenting with Kikuchi-Fujimoto disease (KFD), also named Histiocytic Necrotizing Lymphadenitis, a rare and usually self-limited idiopathic inflammatory disease C1S C1S 1 2 Christian Drouet
00435237 - Journal: Dragon-Durey et al., 2001 - F yes France - - - - - C1SD Proband presenting with lack of antigenic C1s and multiple autoimmune features C1R, C1S C1S 1 1 Christian Drouet
00435244 - Journal: Amano et al., 2008 Two homozygous siblings presenting a C1s deficiency associated with a decreased antigenic C1r F yes Brazil - - - - - C1SD Female proband presenting with recurrent infections (several episodes of pneumonia, septic arthritis and sinusitis) and SLE manifestations since the age of 7 C1S C1S 1 4 Christian Drouet
00435251 - Journal: Inoue 1998 - M yes Japan - - - - - C1SD Proband presenting with a complete C1s deficiency, including LES with malar rash, lupus nephritis, ANA+, dsDNA Ab+, dilated cardiomyopathy at age 26y C1S C1S 1 1 Christian Drouet
00435253 patient PubMed: Endo 1999, Journal: Endo 1999 - M no Japan - - - - - C1SD Proband presenting a complete C1s deficiency, with seizures and virus-associated hemophagocytic syndrome at age 4y; death at age 7y C1S C1S 2 1 Christian Drouet
00435254 family PubMed: Amano et al., 2008 Journal: Amano et al., 2008 2-generation family, 4 affected (F, 3M), unaffected non-carrier parents F yes Brazil - - - - - C1SD Homozygous proband and her brother are presenting with a selective C1s deficiency and recurrent infections (several episodes of pneumonia, septic arthritis and sinusitis) and SLE manifestations since age 7y C1S C1S 1 4 Christian Drouet
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