Rare Disease Library

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Absent thumb-short stature-immunodeficiency syndrome

Acquired immunodeficiency

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autoinflammatory syndrome with immune deficiency

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency · CID-cancer predisposing syndrome due to AIOLOS deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

FADD-related immunodeficiency

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency syndrome with autoimmunity

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Non-severe combined immunodeficiency

Non-SCID

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

OBSOLETE: Other complex syndrome of primary immunodeficiency

Other immunodeficiency syndromes due to defects in innate immunity

Periodic fever-immunodeficiency-thrombocytopenia syndrome

PFITS

Primary immunodeficiency

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Rh deficiency syndrome

Rh-null syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Severe combined immunodeficiency

SCID

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome