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:

p19, IL-23, IL-23p19

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 (635 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	Ulcerative colitis, Crohn's disease	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
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne...	OMIM:606843
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Retinal Telangiectasia And Hypogammaglobulinemia	Decreased circulating IgG level, Reduced delayed hypersensitivity	OMIM:267900
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,...	OMIM:615897
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 34	Severe recurrent varicella, Recurrent mycobacterial infections	OMIM:300645
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation	OMIM:615615
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte...	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:605258
Transcobalamin Deficiency	Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D...	ORPHA:859
Immunodeficiency, Common Variable, 14	Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:617765
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re...	OMIM:613500
Immunodeficiency, Common Variable, 7	Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,...	OMIM:614699
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurren...	OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Masp2 Deficiency	Ulcerative colitis, Recurrent pneumonia	OMIM:613791
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Severe Combined Immunodeficiency, X-Linked	T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg...	OMIM:300400
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
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia	OMIM:200900
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, ...	OMIM:613502
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating...	OMIM:619281
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec...	OMIM:308220
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	Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly	OMIM:183350
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Enterocolitis	Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia	OMIM:226150
Agammaglobulinemia 8, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:611926
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai...	OMIM:267500
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgG level, Increased circulating IgA level	OMIM:144120
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Abdominal distention, Secretory diarrhea	OMIM:616868
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon...	OMIM:153600
Immunodeficiency 51	Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre...	OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem...	OMIM:612692
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in...	OMIM:613495
Immunodeficiency 70	Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea...	OMIM:618969
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ...	OMIM:300310
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease	OMIM:613148
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia...	OMIM:615285
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis...	OMIM:601495
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis	OMIM:612567
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 8	Lymphopenia	OMIM:615401
Hirschsprung Disease, Susceptibility To, 1	Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero...	OMIM:142623
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe...	ORPHA:572
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia	OMIM:615592
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria...	OMIM:310350
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac...	ORPHA:70592
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p...	OMIM:312863
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ...	OMIM:202700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level	OMIM:617744
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I...	OMIM:615513
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Immunodeficiency 60	Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc...	OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i...	OMIM:601457
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Inflammatory Bowel Disease (Crohn Disease) 30	Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P...	OMIM:619079
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 48	Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce...	OMIM:240500
Cernunnos-Xlf Deficiency	T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,...	ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Decreased specific anti-polysa...	OMIM:300853
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I...	OMIM:618944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD...	ORPHA:331206
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R...	OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel...	ORPHA:276
Immunodeficiency 35	Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre...	OMIM:611521
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Cd8 Deficiency, Familial	Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ...	OMIM:608957
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht...	OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis	OMIM:613960
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent opportunistic infections, Skin rash, Recurrent gastroenteritis, Chronic oral candidiasi...	ORPHA:275
Immunodeficiency 21	Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni...	OMIM:614172
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,...	ORPHA:90283
Diverticulosis, Small-Intestinal	Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic...	OMIM:223320
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira...	OMIM:209920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent...	ORPHA:277
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i...	OMIM:608971
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp...	OMIM:618534
Immunodeficiency 15A	Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B...	OMIM:618204
Adult Idiopathic Neutropenia	Monocytosis, Increased circulating IgM level, Monocytopenia, Recurrent fungal infections, Helicob...	ORPHA:2688
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain	OMIM:191390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ...	ORPHA:169160
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Immunodeficiency 25	T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h...	OMIM:610163
Immunodeficiency With Hyper-Igm, Type 1	Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c...	OMIM:308230
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Trimethylaminuria	Neutropenia, Anemia, Splenomegaly	OMIM:602079
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim...	OMIM:608184
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos...	ORPHA:319552
Autoimmune Lymphoproliferative Syndrome, Type V	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L...	OMIM:616100
Whim Syndrome 1	Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve...	OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i...	ORPHA:217390
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ...	OMIM:618108
5-Oxoprolinase Deficiency	Vomiting, Enterocolitis, Diarrhea, Abdominal pain	OMIM:260005
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,...	ORPHA:169154
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ...	OMIM:614470
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Transcobalamin Ii Deficiency	Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:275350
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:601859
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Pure red cell aplasia, Anemia	OMIM:618165
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Neutropenia, Anemia	OMIM:614082
Gastroesophageal Reflux	Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm	OMIM:109350
Combined Immunodeficiency Due To Zap70 Deficiency	Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Recurrent...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ...	ORPHA:35078
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev...	OMIM:617514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Hyperlipoproteinemia, Type Id	Colitis	OMIM:615947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra...	OMIM:600802
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia	OMIM:617475
Immunodeficiency 13	T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis...	OMIM:615518
Lichtenstein Syndrome	Decreased circulating IgA level, Neutropenia	OMIM:246550
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Specific Granule Deficiency 1	Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo...	OMIM:245480
Immune Deficiency Disease	Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec...	OMIM:242850
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ...	OMIM:618986
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent...	ORPHA:331235
Ataxia-Pancytopenia Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,...	ORPHA:2585
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona...	OMIM:243700
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
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Visceral Myopathy 2	Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat...	OMIM:619350
Immunodeficiency 36	Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Ch...	OMIM:616005
Purine Nucleoside Phosphorylase Deficiency	Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi...	OMIM:613179
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:617062
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Griscelli Syndrome, Type 2	Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec...	OMIM:607624
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 46	Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia	OMIM:616740
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ...	OMIM:242860
Refractory Anemia	Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem...	ORPHA:98826
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Immunodeficiency 72 With Autoinflammation	Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas...	OMIM:618982
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, T lymphocytopenia, Re...	OMIM:606367
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Pancytopenia And Occlusive Vascular Disease	Thrombocytopenia, Leukopenia, Pancytopenia, Anemia	OMIM:167850
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 76	T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Recurrent bronchiolitis, Splenomegaly,...	OMIM:619164
Thrombocytopenia 5	Thrombocytopenia, Neutropenia, Anemia	OMIM:616216
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo...	OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ...	OMIM:613101
Immunodeficiency, Common Variable, 6	Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t...	OMIM:613496
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Omenn Syndrome	Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Erythroderma, Recurrent v...	OMIM:603554
Pgm3-Cdg	Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen...	ORPHA:443811
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos...	OMIM:617241
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ...	OMIM:308240
Immunodeficiency 47	Decreased circulating antibody level, Leukopenia, Splenomegaly	OMIM:300972
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Immunodeficiency 20	Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec...	OMIM:615707
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc...	OMIM:178610
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A...	OMIM:159550
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega...	OMIM:150550
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly	OMIM:618495
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu...	OMIM:618116
Complement Factor B Deficiency	Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections	OMIM:615561
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly	OMIM:603552
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
X-Linked Lymphoproliferative Disease	Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+...	ORPHA:2442
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Panhypogam...	OMIM:307200
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Hemochromatosis, Type 3	Lymphopenia, Neutropenia, Anemia	OMIM:604250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Ataxia-Telangiectasia	Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ...	OMIM:208900
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Autosomal Dominant Severe Congenital Neutropenia	Monocytosis, Periodontitis, Lymphopenia, Leukemia, Recurrent viral infections, Pneumonia, Recurre...	ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
C1Q Deficiency	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ...	OMIM:300291
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop...	OMIM:617780
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Immunodeficiency 55	Neutropenia	OMIM:617827
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Aregenerative Anemia	Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ...	ORPHA:101096
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he...	OMIM:614700
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope...	OMIM:300835
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro...	OMIM:619220
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Insulin Autoimmune Syndrome	Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti...	ORPHA:411593
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus...	OMIM:147060
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent skin infections,...	OMIM:300635
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume	OMIM:618849
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Neutropenia, Anemia	OMIM:617243
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia	OMIM:598500
Folate Malabsorption, Hereditary	Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia	OMIM:229050
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis	OMIM:300455
Pontocerebellar Hypoplasia, Type 14	Thrombocytopenia, Chronic neutropenia	OMIM:619301
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Mu-Heavy Chain Disease	Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count	ORPHA:100024
Immunodeficiency 66	Pustule, Defective T cell proliferation, Meningitis, Sepsis, Recurrent skin infections	OMIM:618847
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency 68	T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, Recurrent...	OMIM:612260
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia	ORPHA:33355
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia	ORPHA:318
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Bloom Syndrome	Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating...	OMIM:210900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616910
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Anemia, Splenomegaly	ORPHA:100025
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia	OMIM:615190
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent bacterial infections	OMIM:613779
Pseudomyxoma Peritonei	Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina...	ORPHA:26790
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ...	OMIM:233710
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Chronic diarrhea, Pyod...	OMIM:242700
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia	OMIM:616738
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	ORPHA:221139
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ...	OMIM:233690
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Leukemia, Decreased circulating IgA level	OMIM:208910
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules	ORPHA:238459
Autoinflammatory Syndrome, Familial, Behcet-Like	Skin rash, Ileal ulcer, Anterior uveitis, Colitis	OMIM:616744
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis	OMIM:604416
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Lymphoproliferative Syndrome 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D...	OMIM:613011
Idiopathic Aplastic Anemia	Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:88
Lymphoproliferative Syndrome 2	Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Decreased lymphocyte prolif...	OMIM:615122
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Immunodeficiency 27B	Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis	OMIM:615978
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia, Increased circulating antibody level	OMIM:618048
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Abnormal serum interleukin level, Recurrent gastroenteritis, Recurrent enterov...	ORPHA:79124
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total IgM, Decreased...	OMIM:612301
Barth Syndrome	Granulocytopenia, Neutropenia	OMIM:302060
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Wiskott-Aldrich Syndrome, Autosomal Dominant	Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti...	OMIM:600903
Immunodeficiency 23	Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Recurrent st...	OMIM:615816
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C...	OMIM:313900
Developmental And Epileptic Encephalopathy 66	Neutropenia, Anemia	OMIM:618067
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati...	OMIM:619313
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	OMIM:301000
Cystic Fibrosis	Decreased circulating antibody level	ORPHA:586
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Neutropenia, Anemia	OMIM:617056
Retinal Venous Beading	Neutropenia	OMIM:180080
Secondary Short Bowel Syndrome	Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,...	ORPHA:95427
Immunodeficiency 43	Decreased circulating IgG level	OMIM:241600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr...	OMIM:617099
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp...	OMIM:608203
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, ...	ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon...	OMIM:615559
Immunodeficiency 58	Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Decrease...	OMIM:618131
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art...	OMIM:608809
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Splenomegaly, Anemia, Recurrent bacterial infections,...	OMIM:612840
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly	ORPHA:79477
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Neutropenia, Anemia, Splenomegaly	ORPHA:79312
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,...	OMIM:169400
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Poikiloderma With Neutropenia	Neutropenia, Splenomegaly	OMIM:604173
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity	ORPHA:444463
Esophagitis, Eosinophilic, 1	Dysphagia, Esophagitis, Vomiting	OMIM:610247
Esophagitis, Eosinophilic, 2	Dysphagia, Esophagitis, Vomiting	OMIM:613412
Diamond-Blackfan Anemia 11	Neutropenia, Anemia, Anemia of inadequate production	OMIM:614900
Leukocyte Adhesion Deficiency, Type I	Recurrent staphylococcal infections, Leukocytosis, Periodontitis, Rectal abscess, Recurrent bacte...	OMIM:116920
Whim Syndrome	Severe periodontitis, Parotitis, Bronchiectasis, Recurrent upper respiratory tract infections, Ly...	ORPHA:51636
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splenomegaly	OMIM:613385
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Panhypogammaglobulinemia	OMIM:602450
Aggressive Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen...	ORPHA:98850
Complement Factor I Deficiency	Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si...	OMIM:610984
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A...	ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N...	OMIM:304790
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Iga Pemphigus	Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula...	ORPHA:555905
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm...	ORPHA:411696
Bloom Syndrome	Abnormal proportion of CD8-positive T cells, Decreased circulating antibody level, Acute myeloid ...	ORPHA:125
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia	OMIM:616871
Immunodeficiency 27A	Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati...	OMIM:209950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt...	OMIM:612541
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy...	OMIM:617388
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
Schimke Immunoosseous Dysplasia	Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Abnormal immunogl...	OMIM:242900
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Chronic oral candidiasis, Reduced natural killer cell activity, Recurrent ot...	OMIM:608233
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia	OMIM:212750
Vici Syndrome	Cutaneous anergy, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell...	OMIM:242840
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Letterer-Siwe Disease	Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia	OMIM:246400
Pulmonary Fibrosis, Idiopathic	Increased circulating antibody level	OMIM:178500
Subcorneal Pustular Dermatosis	Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Neutropenia, Anemia	OMIM:614857
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Cyclic Neutropenia	Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli...	ORPHA:2686
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly	ORPHA:398124
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Hepatitis, Colitis	OMIM:614602
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Eosinophilopenia	Autoimmunity	OMIM:131430
Congenital Enterovirus Infection	Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia	ORPHA:292
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Increased circulating antibody level, Splenomegaly	OMIM:615846
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:90363
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin...	ORPHA:90045
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Py...	OMIM:258900
X-Linked Agammaglobulinemia	Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia	ORPHA:47
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	ORPHA:520
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG level, Decreased circula...	OMIM:223370
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec...	ORPHA:3261
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Chediak-Higashi Syndrome	Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia...	OMIM:214500
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter...	ORPHA:167
Mirage Syndrome	Lymphopenia, Gastroesophageal reflux, Recurrent urinary tract infections, Hyponatremia, Chronic d...	OMIM:617053
Autoinflammation With Infantile Enterocolitis	Skin rash, Villous atrophy, Episodic vomiting, Feeding difficulties in infancy, Enterocolitis, Se...	OMIM:616050
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Panniculitis, Diarrhea, Recurrent respirator...	OMIM:615758
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia	OMIM:614171
Shwachman-Diamond Syndrome	Skin rash, Pneumonia, Neutropenia, Pancytopenia, Leukopenia, Sinusitis, Anemia, Eczema, Osteomyel...	ORPHA:811
Leukocyte Adhesion Deficiency	Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit...	ORPHA:2968
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
T-Cell Receptor-Alpha/Beta Deficiency	Autoimmunity	OMIM:615387
Angiostrongyliasis	Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati...	ORPHA:74
Griscelli Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Leukopenia, S...	ORPHA:381
Leishmaniasis	Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope...	ORPHA:507
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, N...	OMIM:615952
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, An...	OMIM:615934
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a...	OMIM:250250
Spondyloarthropathy, Susceptibility To, 1	Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,...	OMIM:106300
Cohen Syndrome	Neutropenia, Leukopenia	OMIM:216550
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly	OMIM:201100
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Recurrent bacterial infections	OMIM:612783
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia	OMIM:612528
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia	ORPHA:508542
Roifman Syndrome	Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Felty Syndrome	Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly	ORPHA:47612
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Good Syndrome	Thrombocytopenia, Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia	ORPHA:169105
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Methylcobalamin Deficiency Type Cble	Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	ORPHA:2169
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level, Hypereosinophilia	OMIM:256500
Shigellosis	Peritonitis, Paralytic ileus, Acute colitis, Intestinal perforation, Tenesmus, Abdominal cramps, ...	ORPHA:810
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia	OMIM:277380
Thymic Tumor	Dysgammaglobulinemia	ORPHA:100100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia...	ORPHA:37042
Autoimmune Hepatitis	Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain...	ORPHA:2137
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati...	OMIM:618213
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4...	ORPHA:449400
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Hypocomplementemic Urticarial Vasculitis	Skin rash, Uveitis, Meningitis, Conjunctivitis, Episcleritis, Splenomegaly, Diarrhea, Recurrent b...	ORPHA:36412
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly	ORPHA:3162
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia	OMIM:617303
Necrotizing Enterocolitis	Thrombocytopenia, Neutropenia, Leukocytosis	ORPHA:391673
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis	ORPHA:48104
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Colitis, Hematochezia, Abdominal pain	OMIM:203300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp...	OMIM:616084
Thymoma	Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope...	ORPHA:99867
Nijmegen Breakage Syndrome	Recurrent bronchitis, T lymphocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent u...	OMIM:251260
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Psoriasiform derma...	ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia, Ecz...	OMIM:618935
Aspergillosis	Increased circulating IgE level, Neutropenia, Eosinophilia	ORPHA:1163
Tempi Syndrome	Polycythemia, Increased circulating IgG level, Increased hematocrit	ORPHA:284227
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy	OMIM:618999
Sapho Syndrome	Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,...	ORPHA:793
Trichothiodystrophy 5, Nonphotosensitive	Decreased circulating antibody level	OMIM:300953
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Diarrhea, ...	ORPHA:470
Hyper-Igd Syndrome	Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In...	OMIM:260920
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Anemia	ORPHA:935
Fanconi Anemia, Complementation Group E	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia	OMIM:600901
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,...	OMIM:260400
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor...	ORPHA:3226
Immunodeficiency 59 And Hypoglycemia	Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Granulo...	OMIM:233600
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level	OMIM:606056
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ...	ORPHA:60033
Fanconi Anemia, Complementation Group A	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia	OMIM:227650
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Unclassified Myelodysplastic Syndrome	Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Sepsis In Premature Infants	Leukocytosis, Neutropenia, Thrombocytopenia, Increased circulating interleukin 6, Anemia, Splenom...	ORPHA:90051
Ghosal Hematodiaphyseal Dysplasia	Thrombocytopenia, Leukopenia, Refractory anemia	OMIM:231095
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Multiple Myeloma	Decreased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ...	ORPHA:29073
Hereditary Orotic Aciduria	Impaired T cell function, Anemia, Splenomegaly	ORPHA:30
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi...	ORPHA:85410
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Constrictive pericarditis, Abdominal pain, Protracted diarrhea, Diarrhea, Intestin...	ORPHA:67
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Decreased circulating antibody level, Thrombocytosis	OMIM:226300
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level	ORPHA:69126
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Eosinophilia	OMIM:617425
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron...	OMIM:614576
Popov-Chang syndrome	Decreased circulating antibody level, Lymphopenia	OMIM:618428
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Neutropenia	ORPHA:79284
Netherton Syndrome	Decreased circulating antibody level, Increased circulating IgE level	ORPHA:634
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Fanconi Anemia, Complementation Group C	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia	OMIM:227645
Fusariosis	Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess	ORPHA:228119
Zygomycosis	Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi...	ORPHA:73263
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Neutropenia, Normocytic anemia	OMIM:617941
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Colitis, Chronic diarrhea, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,...	ORPHA:1572
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Anemia, Recurrent bacterial infections	OMIM:244460
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten...	ORPHA:90038
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Kasabach-Merritt Syndrome

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