Gene: Il23a MGI:1932410

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

interleukin 23, alpha subunit p19

Synonyms:

IL-23p19, p19, IL-23

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Il23a 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.

Human diseases associated with Il23a (0 diseases)
Human diseases predicted to be associated with Il23a (688 diseases)

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

The table below shows human diseases predicted to be associated to Il23a by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym...	OMIM:247630
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ...	OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ...	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati...	OMIM:616636
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:859
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619924
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Neutropen...	OMIM:613501
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:300400
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 40	Lymphopenia	OMIM:616433
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism	OMIM:183350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Enterocolitis	Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia	OMIM:226150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,...	OMIM:308220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium	OMIM:616868
Mannose-Binding Lectin Deficiency	Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss...	OMIM:614372
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope...	OMIM:267500
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M...	OMIM:153600
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess	OMIM:613148
Immunodeficiency 61	Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi...	OMIM:300310
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ...	OMIM:612567
Immunodeficiency 8	Lymphopenia	OMIM:615401
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio...	OMIM:619774
Hirschsprung Disease, Susceptibility To, 1	Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp...	OMIM:142623
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira...	OMIM:310350
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m...	OMIM:616022
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Otitis media, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, B lymphocytopenia,...	OMIM:601457
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Cernunnos-Xlf Deficiency	Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ...	ORPHA:169079
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619510
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop...	OMIM:619079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Cd8 Deficiency, Familial	Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi...	OMIM:608957
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope...	OMIM:614493
Immunodeficiency 104	Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, Recurrent opportunistic in...	OMIM:608971
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Diarrhea, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae...	ORPHA:276
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor...	ORPHA:331206
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru...	OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis	OMIM:613960
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R...	ORPHA:275
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Immunodeficiency 36	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly...	OMIM:616005
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ...	OMIM:209920
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Decreased circulating to...	OMIM:243700
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity...	ORPHA:90283
Immunodeficiency 84	Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV...	OMIM:619437
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ...	ORPHA:277
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Inflammatory Bowel Disease 11	Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia	OMIM:191390
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Whim Syndrome 1	Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac...	OMIM:193670
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre...	OMIM:618534
Immunodeficiency 15A	Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor...	OMIM:618204
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti...	OMIM:610163
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Recurrent infection of the gastrointestinal tract, Re...	OMIM:608184
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:619802
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Recurrent respiratory infections, Diarrhea, Inflammation of the large intes...	OMIM:618108
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas...	ORPHA:319552
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Thymic Aplasia	Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit...	ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619752
5-Oxoprolinase Deficiency	Vomiting, Diarrhea, Enterocolitis, Abdominal pain	OMIM:260005
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula...	ORPHA:169154
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased...	OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr...	OMIM:616100
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen...	OMIM:617514
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:275350
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Gastroesophageal Reflux	Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus	OMIM:109350
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti...	ORPHA:911
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat...	OMIM:600802
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Immune Deficiency Disease	Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis...	OMIM:242850
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in...	OMIM:618986
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc...	OMIM:245480
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ...	OMIM:615518
Selective Igm Deficiency	Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma...	ORPHA:331235
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der...	OMIM:619693
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Agammaglobulinemia 1, Autosomal Recessive	Neutropenia, Recurrent enteroviral infections, Recurrent bacterial infections, B lymphocytopenia,...	OMIM:601495
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Purine Nucleoside Phosphorylase Deficiency	Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ...	OMIM:613179
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy...	OMIM:607624
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch...	OMIM:619164
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased...	OMIM:615767
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash...	OMIM:618048
T-Cell Immunodeficiency With Thymic Aplasia	Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of t...	OMIM:242700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+...	OMIM:606367
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased...	OMIM:613496
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Omenn Syndrome	Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Diarrhea, E...	OMIM:603554
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc...	ORPHA:443811
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re...	OMIM:307200
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr...	ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib...	OMIM:613101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia	OMIM:615561
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:90362
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap...	OMIM:102700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm...	ORPHA:486
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic...	OMIM:300755
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
C1Q Deficiency	Systemic lupus erythematosus, Autoimmunity	OMIM:613652
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou...	OMIM:147060
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,...	OMIM:300635
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis...	OMIM:116920
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	OMIM:605309
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti...	ORPHA:411593
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis	OMIM:618847
Immunodeficiency 27B	Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl...	OMIM:615978
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media	OMIM:300455
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu...	ORPHA:158057
Immunodeficiency 68	Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ...	OMIM:612260
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia	ORPHA:33355
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t...	OMIM:620040
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp...	OMIM:233710
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Pseudomyxoma Peritonei	Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea...	ORPHA:26790
Immunodeficiency 17	Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T...	OMIM:615607
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp...	OMIM:233690
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:612301
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen...	OMIM:619313
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Colitis, Skin rash, Anterior uveitis	OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis	OMIM:604416
Ataxia-Telangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ...	OMIM:208900
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Recurrent enteroviral infections, Hepatosplenomegaly, Diarrhea, Recurr...	ORPHA:79124
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Leukemia	OMIM:208910
Complement Component 5 Deficiency	Recurrent meningococcal disease, Intractable diarrhea, Generalized seborrheic dermatitis, Recurre...	OMIM:609536
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Immunodeficiency 23	Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Abscess, Increased circulating IgG...	OMIM:615816
Secondary Short Bowel Syndrome	Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys...	ORPHA:95427
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato...	OMIM:615122
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron...	OMIM:300972
Cystic Fibrosis	Decreased circulating antibody level	ORPHA:586
Specific Granule Deficiency 2	Intractable diarrhea, Neutropenia, Sepsis, Recurrent bacterial infections, Thrombocytopenia, Recu...	OMIM:617475
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys...	OMIM:608809
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level...	OMIM:600903
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ...	ORPHA:169090
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Wiskott-Aldrich Syndrome	Melena, Eczema, Diarrhea, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivi...	OMIM:301000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Retinal Venous Beading	Neutropenia	OMIM:180080
Immunodeficiency 58	Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac...	OMIM:618131
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Immunodeficiency 43	Decreased circulating IgG level	OMIM:241600
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:79330
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Hepatospleno...	OMIM:612840
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Decreased seru...	OMIM:615559
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Whim Syndrome	Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve...	ORPHA:51636
Complement Factor I Deficiency	Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract...	OMIM:610984
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ...	OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Anemia, Neutropenia, Splenomegaly	ORPHA:79312
Esophagitis, Eosinophilic, 1	Dysphagia, Vomiting, Esophagitis	OMIM:610247
Esophagitis, Eosinophilic, 2	Dysphagia, Vomiting, Esophagitis	OMIM:613412
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia	ORPHA:444463
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia	OMIM:613385
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti...	ORPHA:411696
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia	OMIM:616871
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki...	ORPHA:158048
Trichohepatoenteric Syndrome 2	Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea	OMIM:614602
Postinfectious Vasculitis	Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat...	ORPHA:48435
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp...	OMIM:306400
Bloom Syndrome	Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati...	ORPHA:125
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat...	ORPHA:90363
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ...	OMIM:602450
Hermansky-Pudlak Syndrome 2	Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Gastroesophageal reflu...	OMIM:608233
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Vici Syndrome	Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec...	OMIM:242840
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, B lymphocyt...	OMIM:619381
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia...	OMIM:617388
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea...	OMIM:210900
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:398124
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile...	OMIM:243150
Eosinophilopenia	Autoimmunity	OMIM:131430
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po...	OMIM:258900
Icf Syndrome	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia	ORPHA:2268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt...	OMIM:620005
Congenital Enterovirus Infection	Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:292
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Lymphopenia, Neutropenia	OMIM:616395
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Hyperphosphatasia With Mental Retardation Syndrome 6	High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting	OMIM:616809
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, Villous atrophy, Se...	OMIM:616050
X-Linked Agammaglobulinemia	Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation	ORPHA:47
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy...	ORPHA:90045
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Diarrhea, Recurrent respiratory infections, ...	OMIM:615758
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Mirage Syndrome	Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary...	OMIM:617053
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:520
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:212065
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemi...	ORPHA:811
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm...	ORPHA:3261
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun...	OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest...	OMIM:301074
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P...	ORPHA:507
Leukocyte Adhesion Deficiency	Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow...	ORPHA:2968
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Bloody diarrhea, Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration o...	OMIM:618213
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	ORPHA:420741
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Griscelli Syndrome	Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ...	ORPHA:381
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Splenomegaly, Leukocytosis, Eczema, Lymphadenitis, Elevated circulating creatine...	OMIM:615895
Propionic Acidemia	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:606054
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop...	OMIM:615952
Spondyloarthropathy, Susceptibility To, 1	Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi...	OMIM:106300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec...	OMIM:612541
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections	OMIM:612783
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb...	OMIM:615934
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Felty Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:47612
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:508542
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level	OMIM:619750
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251110
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:353298
Dubowitz Syndrome	Decreased circulating IgA level, Acute lymphoblastic leukemia, Decreased circulating IgG level, A...	OMIM:223370
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Methylcobalamin Deficiency Type Cble	Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	ORPHA:2169
Autoimmune Hepatitis	Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa...	ORPHA:2137
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Eczematoid derm...	ORPHA:37042
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Shigellosis	Abdominal cramps, Bloody mucoid diarrhea, Bloody diarrhea, Paralytic ileus, Acute colitis, Abdomi...	ORPHA:810
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypokalemia, Elevated circulating C-reactive protein concentration, ...	OMIM:619573
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251100
Thymic Tumor	Dysgammaglobulinemia	ORPHA:100100
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia	OMIM:277380
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly	ORPHA:3162
Good Syndrome	Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level	ORPHA:169105
Hypocomplementemic Urticarial Vasculitis	Skin rash, Splenomegaly, Recurrent bacterial infections, Diarrhea, Arthritis, Meningitis, Uveitis...	ORPHA:36412
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy...	ORPHA:449400
Pyoderma Gangrenosum	Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine	ORPHA:48104
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Anemia, Thrombocytopenia	OMIM:617303
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM	ORPHA:369837
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Aspergillosis	Eosinophilia, Increased circulating IgE level, Neutropenia	ORPHA:1163
Cartilage-Hair Hypoplasia	Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation...	OMIM:250250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis...	ORPHA:324964
Thymoma	Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abnormal l...	ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, Perianal abscess...	OMIM:618935
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Nijmegen Breakage Syndrome	Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis media, Diarrhea, Recurrent u...	OMIM:251260
Autoinflammation, Immune Dysregulation, And Eosinophilia	Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration	OMIM:618999
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pancreatitis, Hemophagocytosis, Steatorrhea, Diarrh...	ORPHA:470
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o...	ORPHA:67
Idiopathic Bronchiectasis	Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia, Recurren...	ORPHA:60033
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Sapho Syndrome	Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk...	ORPHA:793
Fanconi Anemia, Complementation Group E	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:600901
Trichothiodystrophy 5, Nonphotosensitive	Decreased circulating antibody level	OMIM:300953
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Congenital Disorder Of Glycosylation, Type Iil

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