Orphanet: Search by disease name
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

11 Result(s)

ORPHA:444463   (Disorder)   Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

More information

Synonym(s) : Evans syndrome associated with primary immunodeficiency

ORPHA:477857   (Disorder)   Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

More information

Synonym(s) : Autosomal recessive primary immunodeficiency due to RORC mutation

ORPHA:437552   (Disorder)   Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

More information

Synonym(s) : Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity

ORPHA:447731   (Disorder)   NIK deficiency

More information

Synonym(s) : Primary immunodeficiency with multifaceted aberrant lymphoid immunity

ORPHA:101997   (Group of disorders)   Primary immunodeficiency

More information
ORPHA:90023   (Disorder)   Primary immunodeficiency syndrome due to LAMTOR2 deficiency

More information

Synonym(s) : Primary immunodeficiency syndrome with short stature ; Primary immunodeficiency syndrome due to p14 deficiency

ORPHA:75391   (Disorder)   Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

More information

Synonym(s) : Primary immunodeficiency due to MCM4 deficiency

ORPHA:431166   (Disorder)   Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

More information

Synonym(s) : Primary immunodeficiency with post-MMR vaccine viral infection