Gene Summary

Name:
CD22 antigen
Synonyms:
Lyb-8,  Lyb8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Cd22tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased lymphocyte cell number Cd22tm1b(EUCOMM)Wtsi HOM Early adult 4.76×10-05
increased neutrophil cell number Cd22tm1b(EUCOMM)Wtsi HOM   Early adult 1.90×10-05
increased monocyte cell number Cd22tm1b(EUCOMM)Wtsi HOM Early adult 7.66×10-05
small superior vagus ganglion Cd22tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 100% (1 of 1)
Prostate gland  Section images heterozygote 100% (1 of 1)
Testis  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 1)
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Cd22 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cd22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 40
Lymphopenia OMIM:616433
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Immunodeficiency 8
Lymphopenia OMIM:615401
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Splenomegaly OMIM:618495
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Autoimmune antibody positivity, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Immunodeficiency 19
Lymphopenia OMIM:615617
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Neutropenia, B lymphocytopenia OMIM:601495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Chronic myelomonocytic leukem... ORPHA:90280
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Ja... OMIM:301045
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Hepatitis, Ap... OMIM:300635
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia ORPHA:83313
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Increased circulating IgG level, Splenomegaly, In... OMIM:617388
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, Rh... OMIM:615934
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Hepatomegaly, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Anti-liver cytosolic antigen type 1 antibody positivity, Granulo... ORPHA:562639
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Lymphopenia, ... OMIM:615816
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus ORPHA:99811
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased p... ORPHA:221139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Juvenile rheum... ORPHA:275
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Autoimmune Hepatitis
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... ORPHA:2137
Alopecia Areata 1
Autoimmunity OMIM:104000
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosinophilia, ... ORPHA:74
Bloom Syndrome
Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating... OMIM:210900
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Abnormal lymphocyte morphology, A... ORPHA:293978
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Lambert Syndrome
Intrahepatic biliary atresia, Decreased circulating antibody level, Jaundice, Cholestasis ORPHA:1296
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Secondary Intestinal Lymphangiectasia
Abnormality of the lymphatic system, Decreased circulating antibody level, Lymphopenia ORPHA:90363
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Hepatomegaly ORPHA:251009
C3 Glomerulopathy
Autoimmunity, Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, C3 n... ORPHA:329918
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Good Syndrome
Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediast... ORPHA:169105
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormali... OMIM:209920
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decr... OMIM:615952
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449432
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Cystic Fibrosis
Hepatomegaly, Decreased circulating antibody level, Biliary cirrhosis, Exocrine pancreatic insuff... ORPHA:586
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy ORPHA:353298
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Caffey Disease
Increased circulating antibody level ORPHA:1310
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia,... OMIM:617303
Complement Component C1R/C1S Deficiency
Autoimmunity OMIM:216950
Iga Pemphigus
Cutaneous abscess, Monoclonal elevation of circulating IgA, Autoimmune antibody positivity, Incre... ORPHA:555905
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Bloom Syndrome
Recurrent tonsillitis, Decreased circulating total IgM, Decreased circulating antibody level, Acu... ORPHA:125
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Acquired Partial Lipodystrophy
Autoimmunity, Lymphocytosis, Decreased serum complement C3, Hepatic steatosis ORPHA:79087
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Lymphopenia, Neutropenia, Anemia OMIM:604250
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgM level, Antinuclear antibody positivity, Increased circula... ORPHA:186
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Autoimmunity OMIM:614162
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Abnormal autonomic nervous system physiology, Neutropenia, Thrombocytopenia... OMIM:598500
Systemic Lupus Erythematosus
Systemic lupus erythematosus, Hemolytic anemia, Thrombocytopenia, Leukopenia, Antiphospholipid an... OMIM:152700
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym... OMIM:613179
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess formation, Agammaglobulinem... ORPHA:47
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Splenomegaly, Anemia, Incr... ORPHA:29073
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Tularemia
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:3392
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers OMIM:616744
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Autoimmunity, Decreased serum complement factor B, Thrombocytopenia... ORPHA:2298
Tick-Borne Encephalitis
Increased circulating IgM level, Leukocytosis, Abnormality of serum cytokine level, Thrombocytope... ORPHA:297
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Autosomal Agammaglobulinemia
Hepatitis, Agammaglobulinemia, Neutropenia ORPHA:33110
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Hepatom... OMIM:233600
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Thymic Tumor
Mediastinal lymphadenopathy, Dysgammaglobulinemia, Neoplasm of the thymus ORPHA:100100
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Thrombocytopenia, Anemia, Leuko... ORPHA:505248
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Pancreatic hypoplasi... ORPHA:83617
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Generalized lymphadenopathy, De... ORPHA:420741
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Prolidase Deficiency
Systemic lupus erythematosus, Increased circulating antibody level, Thrombocytopenia, Anemia, Spl... OMIM:170100
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly ORPHA:3162
Amed Syndrome, Digenic
Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia OMIM:619151
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly OMIM:226300
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Decreased circulating antibody level, Lymphopenia, Abnormality of the lym... ORPHA:90362
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Abn... ORPHA:100026
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Brucellosis
Lung abscess, Thrombocytosis, Increased circulating IgM level, Leukocytosis, Granuloma, Thrombocy... ORPHA:1304
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... ORPHA:227990
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Male hypogonadism, Abnormal vagina morphology, Gonado... ORPHA:168563
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... ORPHA:760
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... ORPHA:449395
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level, Abnormality of the thymus OMIM:208910
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Chronic lymphatic leukem... ORPHA:90033
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level ORPHA:369837
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Leukocytosis, Autoimmunity, Decreased serum complement C4, Th... ORPHA:90060
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating antibody level OMIM:606056
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Isolated Agammaglobulinemia
Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recur... ORPHA:229717
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level, Eosinophilia ORPHA:449427
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Leukemia, Monoclon... ORPHA:33226
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:617591
Coccidioidomycosis
Increased circulating IgM level, Granuloma, Increased circulating IgG level, Abnormality of the s... ORPHA:228123
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... ORPHA:227982
Q Fever
Cryoglobulinemia, Anticardiolipin IgG antibody positivity, Increased circulating antibody level, ... ORPHA:781
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosus, Chole... OMIM:614576
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Whim Syndrome
Lymphadenitis, Decreased circulating antibody level, Lymphopenia, Neutropenia, Abnormality of neu... ORPHA:51636
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Abnormal immunogl... OMIM:242900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Pancytopenia, He... OMIM:615688
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cirrhosis, Antineutrophil antibody positivity, Autoi... ORPHA:228426
Linear Iga Dermatosis
Autoimmunity ORPHA:46488
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Splenomegaly, Lymphadenopathy ORPHA:85414
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmunity ORPHA:90036
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Py... OMIM:258900
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia OMIM:158350
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... ORPHA:77259
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased circulating ant... OMIM:618131
Primary Sclerosing Cholangitis
Autoimmunity, Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level ORPHA:83600
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hypersplenism, Splenomega... OMIM:613385
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Aplasia Cutis Congenita With Intestinal Lymphangiectasia