List of diseases covered by
Severe Combined Immunodeficiency NGS panel

Gene Condition
ADA Severe combined immunodeficiency due to ADA deficiency
AK2 Reticular dysgenesis
CARD11 B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A;
Immunodeficiency 11B with atopic dermatitis
CD247 Immunodeficiency 25
CD40 Immunodeficiency with hyper-IgM, type 3
CD8A CD8 deficiency, familial
CD3D Immunodeficiency 19
CD3E Immunodeficiency 18, SCID variant
CD3G Immunodeficiency 17, CD3 gamma deficient
CD40LG Immunodeficiency, X-linked, with hyper-IgM
CIITA Bare lymphocyte syndrome, type II, complementation group A;
Rheumatoid arthritis, susceptibility to
CORO1A Immunodeficiency 8
DCLRE1C Severe combined immunodeficiency, Athabascan type; Omenn syndrome
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy;
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
IKBKB Immunodeficiency 15A; Immunodeficiency 15B
IL7R Severe combined immunodeficiency, T-cell negative,
B-cell/natural killer cell-positive type
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity
IL2RG Combined immunodeficiency, X-linked, moderate;
Severe combined immunodeficiency, X-linked
JAK3 SCID, autosomal recessive, T-negative/B-positive type
LCK Immunodeficiency 22
LIG4 LIG4 syndrome
MALT1 Immunodeficiency 12
MTHFD1 Combined immunodeficiency and megaloblastic anemia
with or without hyperhomocysteinemia
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
ORAI1 Immunodeficiency 9; Myopathy, tubular aggregate, 2
PGM3 Immunodeficiency 23
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency
PRKDC Immunodeficiency 26, with or without neurologic abnormalities
PTPRC Severe combined immunodeficiency, T cell-negative,
B-cell/natural killer-cell positive
RAC2 Immunodeficiency 73C with defective neutrophil
chemotaxis and hypogammaglobulinemia;
Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis;
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion,
severe cytomegalovirus infection, and autoimmunity; Omenn syndrome;
Combined cellular and humoral immune defects with granulomas;
Severe combined immunodeficiency, B cell-negative
RAG2 Combined cellular and humoral immune defects with granulomas; Omenn syndrome;
Severe combined immunodeficiency, B cell-negative
RFX5 Bare lymphocyte syndrome, type II, complementation group C
RFXANK MHC class II deficiency, complementation group B
RFXAP Bare lymphocyte syndrome, type II,
complementation group D
RMRP Anauxetic dysplasia 1; Cartilage-hair hypoplasia;
Metaphyseal dysplasia without hypotrichosis
SLC46A1 Folate malabsorption, hereditary
STAT5B Growth hormone insensitivity
with immune dysregulation 1, autosomal recessive;
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
STIM1 Immunodeficiency 10; Myopathy, tubular aggregate, 1;
Stormorken syndrome
TBX1 Conotruncal anomaly face syndrome;
DiGeorge syndrome; Tetralogy of Fallot; Velocardiofacial syndrome
TTC7A Gastrointestinal defects and immunodeficiency syndrome
UNC119 Immunodeficiency 13
ZAP70 Immunodeficiency 48;
Autoimmune disease, multisystem, infantile-onset, 2