Autoimmunity, and Neutropenia

Diseases related with Autoimmunity and Neutropenia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Neutropenia that can help you solving undiagnosed cases.


Top matches:

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY


Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

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Other less relevant matches:

Low match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Low match RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE


RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Top 5 symptoms//phenotypes associated to Autoimmunity and Neutropenia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Hemolytic anemia Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autoimmune thrombocytopenia Splenomegaly Immunodeficiency Hepatosplenomegaly Recurrent infections Hepatomegaly Increased antibody level in blood Leukemia Fever Respiratory tract infection Increased IgM level Autoimmune neutropenia Follicular hyperplasia Decreased lymphocyte apoptosis Purpura Skin rash Lymphopenia Inflammatory abnormality of the skin Petechiae Lymphoma Vasculitis

Rare Symptoms - Less than 30% cases


Urticaria Increased IgG level Antinuclear antibody positivity Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Hepatocellular carcinoma Iron deficiency anemia Diarrhea Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Antineutrophil antibody positivity Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Smooth muscle antibody positivity Atopic dermatitis Abnormal intestine morphology Recurrent respiratory infections Lymphocytosis Abnormal lung morphology Eczema Hypothyroidism Decreased antibody level in blood Platelet antibody positive Eosinophilia Carcinoma Gastrointestinal hemorrhage Interstitial pneumonitis Lymphoproliferative disorder Sepsis Recurrent bacterial infections Multiple myeloma Pneumonia Interstitial pulmonary abnormality Decreased T cell activation Type I diabetes mellitus Impaired Ig class switch recombination Delayed puberty Basal cell carcinoma Arthritis Hodgkin lymphoma Arthralgia Absence of lymph node germinal center Diabetes mellitus Abnormality of the dentition Generalized edema Enlarged tonsils Agranulocytosis Colitis Uveitis IgE deficiency Short stature Intermediate uveitis Cervical lymphadenopathy Opportunistic infection Extramedullary hematopoiesis Chronic lymphatic leukemia Pain Dysarthria Celiac disease Leukoencephalopathy Abnormality of the liver Neurodegeneration Cognitive impairment Otitis media Glomerulonephritis Recurrent otitis media Failure to thrive Global developmental delay Choreoathetosis Seizures Clumsiness Involuntary movements Chronic diarrhea Primary hypothyroidism Weight loss Encephalitis IgA deficiency IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis IgM deficiency Chronic hepatitis Recurrent ear infections Dysgammaglobulinemia Sclerosing cholangitis Cholangiocarcinoma Scleroderma Growth delay Hepatitis Pulmonary insufficiency Gingival bleeding Thromboembolism Cerebral hemorrhage Intracranial hemorrhage Epistaxis Abnormal blistering of the skin Abnormal bleeding Bruising susceptibility Falls Anxiety Depressivity Fatigue Recurrent fungal infections Verrucae Internal hemorrhage Recurrent viral infections B-cell lymphoma Chronic mucocutaneous candidiasis Right ventricular hypertrophy Combined immunodeficiency Patent foramen ovale Ventricular hypertrophy Atrial septal defect B lymphocytopenia Decrease in T cell count Severe combined immunodeficiency Abnormal erythrocyte morphology Leukopenia Arterial thrombosis Cyclic neutropenia Renal insufficiency Postnatal growth retardation Edema Neoplasm Erythroid dysplasia Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Erythroderma Myelodysplasia Recurrent skin infections Bronchiectasis Ichthyosis Dry skin Respiratory failure Nephrotic syndrome Glaucoma Blindness Intrauterine growth retardation Abnormal facial shape Monocytosis Recurrent upper respiratory tract infections Cardiac arrest Pancytopenia Increased B cell count Malar rash Reticulocytosis Elevated erythrocyte sedimentation rate Nephritis Impaired memory B cell generation



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