Rare Disease Library

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

EBV-induced lymphoproliferative disease due to CD137 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency

EBV-induced lymphoproliferative disease due to CD70 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency

EBV-induced lymphoproliferative disease due to PRKCD deficiency

EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency

EBV-induced lymphoproliferative disease due to TET2 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2