Simplified IUIS

c deficiency
JAK3 deficiency
IL7R deficiency
CD45 deficiency
CD3 deficiency
CD3 deficiency
CD3 deficiency
Coronin-1A deficiency
RAG 1 deficiency
RAG 2 deficiency
DCLRE1C (Artemis) deficiency
DNA PKcs deficiency
DNA ligase I
DNA ligase IV
Cernunnos
Reticular dysgenesis, AK2 deficiency
Adenosine deaminase (ADA) deficiency
Purine nucleoside phosphorylase (PNP) deficiency
CD3 deficiency
CD8 deficiency
ZAP-70 deficiency
CTPS1 deficiency
SCID unknown type
MHC class I deficiency
MHC class II deficiency
ITK deficiency
Cartilage hair hypoplasia
MAGT1 deficiency
DOCK8 deficiency
RhoH Deficiency
MST1 deficiency
TCR deficiency
LCK deficiency
MALT1 deficiency
IL21R deficiency
UNC119 deficiency
CARD11 deficiency
OX40 deficiency
IKBKB deficiency
Activated PI3K-

CD27 deficiency
Omenn syndrome
Combined immune deficiency with unknown or unlisted genetic cause
Wiskott-Aldrich syndrome (WAS)
WIP deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia-like disease (ATLD)
Nijmegen breakage syndrome
Bloom Syndrome
Immunodeficiency with centromeric instability and facial anomalies (ICF)
PMS2 Deficiency
RNF168 deficiency
MCM4 deficiency
DiGeorge syndrome
CHARGE syndrome
Schimke syndrome
Hyper IgE syndrome AD STAT3
Tyk2 deficiency
DOCK8 deficiency
Dyskeratosus congenita
TCN2 deficiency
SLC46A1 deficiency
MTHFD1 deficiency
Comel-Netherton Syndrome
Winged helix deficiency (Nude)
ORAI-I deficiency
STIM1 deficiency
STAT5b deficiency
Hepatic veno-occlusive disease with immunodeficiency (VODI)
IKAROS deficiency
FILS syndrome
Immunodeficiency with multiple intestinal atresias
BTK deficiency
heavy chain deficiency
5 deficiency
Ig deficiency
Ig deficiency
BLNK deficiency
PI3 kinase deficiency
E47 transcription factor deficiency
Agammaglobulinemia of unknown cause or uniisted gene defect

Myelodysplasia with hypogammaglobulinemia

Thymoma with immunodeficiency
Common variable immunodeficiency disorders
ICOS deficiency
CD19 deficiency
CD81 deficiency
CD20 deficiency
CD21 deficiency
TACI deficiency
LRBA deficiency
BAFF receptor deficiency
TWEAK
NFKB2 deficiency
WHIM (Warts, hypogammaglobulinemia, infections, myelokathexis) syndrome
CD40L deficiency
CD40 deficiency
AID deficiency
UNG deficiency
Hyper IgM due to uncertain or unlisted cause
Ig heavy chain mutations and deletions
chain deficiency
Isolated IgG subclass deficiency
IgA with IgG subclass deficiency
PRKC
Activated PI3K-
Selective IgA deficiency
Specific antibody deficiency with normal Ig concentrations and normal numbers of B
Transient hypogammaglobulinemia of infancy with normal numbers of B cells
Hypogammaglobulinemia of unknown cause or uniisted gene defect
Perforin deficiency (FHL2)
UNC13D / Munc13-4 deficiency (FHL3)
Syntaxin 11 deficiency, (FHL4)
STXBP2 / Munc18-2 deficiency (FHL5)
Chediak-Higashi syndrome
Griscelli syndrome, type2
Hermansky-Pudlak syndrome type 2
SH2D1A deficiency (XLP1)
XIAP deficiency (XLP2)
HLH with unknown or unlisted genetic cause
CD16 deficiency
NK cell deficiency not specified

IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked

CD25 deficiency
STAT5b deficiency
APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectoderma
STAT1 gain-of-function mutations (immune dysregulation)
STAT3 gain of function (autoimmunity)
ITCH deficiency
ALPS-FAS
ALPS-FASLG
ALPS-Caspase10
ALPS-Caspase 8
FADD deficiency
CARD11 gain of function (GOF) mutations
PRKCdelta deficiency
ALPS with unknown or unlisted genetic cause
IL-10 deficiency
IL-10R deficiency
IL-10R
Immune dysregulation with autoimmunity due to uncertain or unlisted cause
TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)
RNASEH2B deficiency, AGS2
RNASEH2C deficiency, AGS3
RNASEH2A deficienc y, AGS4
SAMHD1 deficiency , AGS5
ADAR1 deficiency , AGS6
Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)
MDA5 deficiency
Severe congenital neutropenia 1
(ELANE deficiency)
SCN2 (GFI 1 deficiency)
SCN3
(Kostmann Disease) HAX1
SCN4
(G6PC3 deficiency)
SCN5
Glycogen storage disease type Ib
Cyclic neutropenia
X-linked neutropenia/ myelodysplasia
P14/LAMTOR2 deficiency
VPS45 deficiency (Severe congenital neutropenia with myelofibrosis)
Barth Syndrome
Cohen syndrome
Clericuzio syndrome Poikiloderma with neutropenia
Neutropenia,due to uncertain or unlisted cause

Leukocyte adhesion deficiency type 1 (LAD1)

Leukocyte adhesion deficiency type 2 (LAD2)
Leukocyte adhesion deficiency type 3 (LAD3)
Rac 2 deficiency
-actin deficiency
Localized juvenile Periodontitis
Papillon-Lefvre Syndrome
Specific granule deficiency
Shwachman-Diamond syndrome
X-linked chronic granulomatous disease (CGD)
Autosomal recessive CGD p22 phox deficiency
Autosomal recessive CGD p47 phox deficiency
Autosomal recessive CGD p67 phox deficiency
Autosomal recessive CGD p40 phox deficiency
CGD, uncertain genetic cause
IL-12 and IL-23 receptor 1 chain deficiency
IL-12p40 deficiency
IFN- receptor 1 deficiency
IFN- receptor 2 deficiency
STAT1 deficiency (AD form)
Macrophage gp91 phox deficiency
IRF8-deficiency (AD form)
ISG15
IRF 8-deficiency (AR form)
Susceptibility to mycobacteria due to uncertain or unlisted cause
Pulmonary alveolar proteinosis
EDA-ID, X-linked (NEMO deficiency)
EDA-ID, autosomal-dominant
IRAK-4 deficiency
MyD88 deficiency
HOIL1 deficiency
WHIM (Warts, hypogammaglobulinemia, infections, myelokathexis
EVER1 deficiency
EVER2 deficiency
STAT2 deficiency
MCM4 deficiency
TLR3 deficiency
UNC93B1 deficiency
TRAF3 deficiency
TRIF deficiency
TBK1 deficiency

CARD9 deficiency
IL-17RA deficiency
IL-17F deficiency
STAT1 gain-of-function
ACT1 deficiency
Chronic mucucutaneous candidiasis of uncertain or unlisted cause
Isolated congenital asplenia (ICA)
Familial Mediterranean Fever
Mevalonate kinase deficiency (Hyper IgD syndrome)
Muckle-Wells syndrome
Familial cold
autoinflammatory syndrome
Neonatal onset multisystem inflammatory disease or chronic infantile neurologic, c
TNF receptor-associated
periodic syndrome (TRAPS)
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome
Blau syndrome
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia
DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)
DITRA Deficiency of IL-36 receptor antagonist
SLC29A3 mutation
CAMPS (CARD14 mediated psoriasis )
Cherubism
CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
HOIL-1 deficiency
PLAID (PLC2 associated antibody deficiency and immune dysregulation)
Autoinflammatory syndrome due to uncertain or unlisted cause
C1q deficiency
C1r deficiency
C1s deficiency
C4 deficiency
C2 deficiency
C3 deficiency
C5 deficiency
C6 deficiency
C7 deficiency
C8 deficiency
C8b deficiency
C9 deficiency
C1 inhibitor deficiency
Factor B
Factor D deficiency
Properdin deficiency

Factor I deficiency
Factor H deficiency
Factor H related protein deficiencies
Thrombomodulin
MASP1 deficiency
MASP2 deficiency
3MC syndrome COLEC11 deficiency
Complement Receptor 2 (CR2) deficiency
Complement Receptor 3 (CR3) deficiency
Membrane Cofactor Protein (CD46) deficiency
Membrane Attack Complex Inhibitor (CD59) deficiency
Ficolin 3 deficiency
Complement deficiency due to uncertain or unlisted cause

ICD9
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.8
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2

ICD10
D81.2
D81.2
D81.2
D81.2
D81.2
D81.2
D81.2
D81.2
D81.1
D81.1
D81.1
D81.1
D81.1
D81.1
D81.1
D81.0
D81.3
D81.5
D81.2
D81.2
D81.9
D81.9
D81.9
D81.6
D81.7
D81.9
D82.2
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9

279.2
279.2
279.2
279.12
279.2
362.15
362.15
279.2
279.2
279.2
279.2
279.2
279.2
279.11
759.89
279.2
279.8
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.2
279.04
279.04
279.04
279.04
279.04
279.04
279.04
279.04
279.04

D81.9
D81.9
D81.9
D82.0
D81.9
G11.3
G11.3
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D82.1
D81.9
D81.9
D82.4
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D81.9
D80.0
D80.0
D80.0
D80.0
D80.0
D80.0
D81.9
D80.0
D80.0

238.75
212.6
279.06
279
279
279
279
279
279
279
279
279
279.2
288.09
279.05
279.05
279.05
279.05
279.05
279
279
279
279
279.9
279.9
279.01
279.19
279.09
279.09
288.4
288.4
288.4
288.4
288.4
288.4
288.4
279.8
279.8
288.4
279.8
279.8

D46.9/D80.1
D15
D83.0/D83.1
D83.1
D83.0
D83.1
D83.0
D83.0
D83.0
D83.1
D83.0
D83.1
D81.9
D70.8
D80.5
D80.5
D80.5
D80.5
D80.5
D80.1
D80.1
D80.3
D80.3
D81.9
D81.9
D80.2
D80.6
D80.7
D80.1
D76.1
D76.1
D76.1
D76.1
D76.1/D72
D76.1
D76.1
D82.3
D82.3
D76.1
D81.9
D81.9

279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01
288.01

D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0
D70.0

288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
288.2
279.2
279.2
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9

D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D71
D72
D72
D72
D72
D72
D72
D72
D72
D72
D72
D72
D81.9
D81.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9

279.9
279.9
279.9
279.9
279.9
279.9
279.9
277.31
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.9
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8

D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D89.9
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1

279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8
279.8

D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1
D84.1