All individuals with variants in gene FOXN1

5 entries on 1 page. Showing entries 1 - 5.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00148287 - - - F yes Turkey - 00y06m 0 - HSCT Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive nude severe T-cell immunodeficiency with normal B and NK cells, thymus dysgenesis, congenital alopecia and nail dystrophy 1 2 Sinem Firtina
00150235 10206641-Fam PubMed: Adriana 2004, PubMed: Frank 1999, PubMed: Pignata 1996 extensive 7-generation family, 6 affecteds, 55 unaffected heterozygous carriers, 2 sisters from Frank1999 F - Italy south (Acerno) - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy born with complete absence scalp hair /eyebrows / eyelashes; dystrophic nails, no thymic shadow on X-ray; striking impairment T-cell function (1 sister died 12m, other sister received bone marrow transplant) 1 6 Johan den Dunnen
00150236 20978268-Pam1Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents (distant cousins) F yes Portugal - - 0 - thymus transplantation therapy T-cell immunodeficiency, congenital alopecia and nail dystrophy see paper, ..., born at term, nail dystrophy, no hair, infection 1 1 Johan den Dunnen
00150237 20978268-Pam2Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - French;African - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy see paper; ..., born at term, no hair, dystrophic nails, respiratory distress 1 1 Johan den Dunnen
00150238 25173801-Pat PubMed: Chou 2014 - F yes Lebanon - - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy see paper; ..., diffuse, eczematous rash progressed in 2w to erythroderma, severe diarrhea, congenital alopecia, T cell immunodeficiency 1 1 Johan den Dunnen
Legend