Immunodeficiency, and Recurrent urinary tract infections

Diseases related with Immunodeficiency and Recurrent urinary tract infections

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Recurrent urinary tract infections that can help you solving undiagnosed cases.

Top matches:

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthritis
  • Respiratory tract infection
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 53; IMD53

Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY Is also known as tyrosine kinase 2 deficiency|hies with atypical mycobacteriosis, autosomal recessive|autosomal recessive hyper-ige syndrome due to tyk2 deficiency|hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive|tyk2 deficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Lymphadenopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY

Other less relevant matches:

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Dyskinesia
  • Neutropenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Medium match WHIM SYNDROME

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Decreased antibody level in blood Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Meningitis Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Combined immunodeficiency Recurrent bacterial infections Septic arthritis Recurrent fungal infections Chronic mucocutaneous candidiasis Fever Lymphadenopathy Recurrent respiratory infections Hearing impairment Arthritis Lymphopenia Eczema

Rare Symptoms - Less than 30% cases

Autoimmunity Bronchiectasis Anemia Panhypogammaglobulinemia Seizures Encephalitis Recurrent upper respiratory tract infections Severe combined immunodeficiency Failure to thrive Respiratory tract infection Sinusitis Recurrent viral infections Lymphoma Abnormality of female internal genitalia Bone marrow hypercellularity Hypersegmentation of neutrophil nuclei Prostatitis Tonsillitis Enteroviral dermatomyositis syndrome Folliculitis Recurrent enteroviral infections Abnormality of bone marrow cell morphology Abnormality of female external genitalia Atelectasis Carious teeth Verrucae Enteroviral hepatitis B-cell lymphoma Periodontitis IgG deficiency Cellulitis Osteomyelitis Leukocytosis Neoplasm Congestive heart failure Respiratory failure Carcinoma Otitis media Myelokathexis Pruritus Behavioral abnormality Lichenification Abnormality of the immune system Abnormality of blood and blood-forming tissues Hemoptysis Abnormality of the mouth Abnormal toenail morphology Abnormal vagina morphology Cheilitis Abnormality of the fingernails Abnormal endocardium morphology Abnormality of temperature regulation Onychomycosis Abnormal lip morphology Dyspareunia Broad nail Abnormality of vision Abnormality of dental enamel Headache Papule Hyperkeratosis Abnormality of the eye Feeding difficulties in infancy Erythema Skin rash Cough Pyoderma Abnormality of the nail Hematuria Abnormality of the skin Hepatitis Epidermal acanthosis Inflammatory abnormality of the skin Skin ulcer Epididymitis Megaloblastic anemia Recurrent sinopulmonary infections Recurrent lower respiratory tract infections Abnormal lung morphology Hemolytic anemia Hepatosplenomegaly Thrombocytopenia Splenomegaly Recurrent protozoan infections Chronic lymphocytic meningitis Viral hepatitis Cutaneous anergy Protracted diarrhea Cholangitis Villous atrophy Agammaglobulinemia Colitis Leukoencephalopathy Malabsorption Congenital neutropenia Ciliary dyskinesia Dextrocardia Myelodysplasia Aspiration Dyskinesia Recurrent mycobacterial infections Lymphadenitis Increased IgE level Recurrent skin infections Asthma Polyarticular arthritis Joint swelling Recurrent pneumonia Cerebral palsy Chronic otitis media Macrocytic anemia Conjunctivitis Growth hormone deficiency Delayed skeletal maturation Diarrhea Short stature Thiamine-responsive megaloblastic anemia Decreased methylcobalamin Asthenia Folate deficiency Hemolytic-uremic syndrome Anisocytosis Antinuclear antibody positivity Thrombocytosis Leukopenia Increased antibody level in blood Pancytopenia Bilateral sensorineural hearing impairment Metabolic acidosis Retinopathy Pallor Acidosis Intellectual disability, mild Vomiting Hypertension Sensorineural hearing impairment Intellectual disability Immune dysregulation Chronic lung disease Autoimmune hemolytic anemia Chronic oral candidiasis


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